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PubMed2006

Physical and functional association of human protein O-mannosyltransferases 1 and 2.

A defect of protein O-mannosylation causes congenital muscular dystrophy with brain malformation and structural eye abnormalities, so-called Walker-Warburg syndrome. Protein O-mannosylation is catalyzed by protein O-mannosyltransferase 1 (POMT1) and its homologue, POMT2. Coexpression of POMT1 and POMT2 is required to show O-mannosylation activity. Here we have shown that POMT1 forms a complex with POMT2 and the complex possesses protein O-mannosyltransferase activity. Results indicate that POMT1 and POMT2 associate physically and functionally in vivo. Recently, three mutations were reported in the POMT1 gene of patients who showed milder phenotypes than typical Walker-Warburg syndrome. We coexpressed these mutant POMT1s with POMT2 and found that none of them had any activity. However, all POMT1 mutants, including previously identified POMT1 mutants, coprecipitated with POMT2. These results indicate that the mutant POMT1s could form heterocomplexes with POMT2 but that such complexes are insufficient for enzymatic activity.

Abnormalities, Multiple↗

PubMed1991

Effects of magnetic resonance imaging on eye development in the C57BL/6J mouse.

An investigation was undertaken to ascertain the potential teratogenicity of magnetic resonance imaging (MRI) fields. The C57BL/6J mouse was chosen as the experimental model with eye malformations (microphthalmia and morphologic anomalies) designated as the biological end point. This mouse strain is genetically predisposed to this type of malformation as a 10% spontaneous incidence occurs. Dams in groups of 15 were subjected to MRI imaging conditions on gestational day (Gd) 7 for 36 minutes to a spin-echo T-2-weighted scan by using a 1.5 Tesla magnetic field and a radiofrequency (RF) field of 64 MHz. One group was exposed at the magnetic isocenter while another was exposed at the entrance to the magnet lumen. There was also a sham control group. The dams were sacrificed at Gd 14. Assessment of eye abnormality was determined by, 1) a veterinary ophthalmologist, 2) a computer-based method comparing eye areas, and 3) a methodology combining both the above subjective and quantitative methods. MRI fields were found to produce malformation rates (15-37%) higher than controls (2-19% P less than or equal to .05, Kruskal-Wallis Test) for both isocenter and lumen entrance groups. The malformation rates and degree of statistical significance varied somewhat with analytical methodology and the unit of measure (right eye, left eye, or fetus). The results suggest for the first time the potential of MRI fields to produce developmental malformations in an animal model utilizing clinically realistic exposure conditions. (However, the reader is remained that the mouse strain utilized in this investigation was genetically prone to malformations).

Animals↗

PubMed1999

PHACE: a neurocutaneous syndrome with important ophthalmologic implications: case report and literature review.

OBJECTIVES: To introduce PHACE syndrome (Posterior fossa malformations, Hemangiomas, Arterial anomalies, Coarctation of the aorta and other cardiac defects, and Eye abnormalities) to the ophthalmologic literature; to report the first case of PHACE syndrome associated with congenital glaucoma; and to review the ocular and systemic findings that may occur in this entity. DESIGN: Case report and literature review. METHODS: The authors report a child with PHACE syndrome and congenital glaucoma and review the ophthalmologic and systemic manifestations of this syndrome. RESULTS: A 9-month-old girl with PHACE syndrome was treated. She had a large right facial hemangioma, central nervous system (CNS) abnormalities, and cardiac anomalies. Glaucoma was detected in her left eye, and she underwent glaucoma surgery. She did well following two glaucoma procedures, and the facial hemangioma is responding to medical treatment. CONCLUSIONS: Ophthalmologists who examine children with large facial hemangiomas should consider PHACE syndrome in the differential diagnosis and should obtain appropriate CNS imaging studies and cardiac evaluation when the diagnosis is suspected. Congenital glaucoma should be added to the list of PHACE-associated ocular anomalies.

Abnormalities, Multiple↗

PubMed2000

Developmental eye and neural tube defects in the eye blebs mouse.

In the mouse, eye blebs (eb) is a spontaneous mutation that presents a useful model for the study of abnormal eye development. Since its initial description three decades ago, little information has been generated regarding the developmental course of eb eyes. Although the gene for eb has not been identified, much can be learned from the developmental defects present in the eb mouse. First detected in the eye at embryonic day 11.5 (E11.5), the eb defect is observed as an increased vascularization throughout the developing eye and head region. As development proceeds, the embryonic eye fills with blood, and the resulting hematoma distorts the shape of the iris. The eyelids fail to close, and animals are born with open eyes. Lens degeneration and retinal folding are characteristic of eb, as are microphthalmia and thick, disorganized irises. A second presentation of the eb defect is disruption of neural tube closure in the anterior and hindbrain neuropores. These eb animals are born with open neural tubes but with apparently normal eyes.

Animals↗

PubMed2003

Enzymatic diagnostic test for Muscle-Eye-Brain type congenital muscular dystrophy using commercially available reagents.

OBJECTIVES: Mutations disrupting the interaction of extra-cellular ligands and alpha-dystroglycan are responsible for an etiologically heterogeneous group of autosomal recessive congenital muscular dystrophies (CMD) that can have associated brain and eye abnormalities. The objective is to develop a diagnostic test for one of these CMDs, Muscle-Eye-Brain disease (MEB), due to mutations in the gene encoding Protein O-Mannosyl beta-1,2-N-acetylglucosaminyltransferase 1 (POMGnT1). DESIGN AND METHODS: POMGnT1 enzyme activity was determined in extracts of muscle biopsies from four MEB patients and various controls using commercially available reagents. RESULTS: All four MEB muscle samples showed a highly significant decrease in POMGnT1 activity relative to controls. CONCLUSIONS: The assay of POMGnT1 activity in MEB muscle provides a rapid and relatively simple diagnostic test for this disease. CMDs associated with brain malformations such as MEB, WWS and FCMD are heterogenous in clinical presentation and on radiologic examination, suggesting that POMGnT1 assays of muscle biopsies should be used as a screening procedure for MEB in all CMD patients associated with brain malformations.

Brain↗

PubMed1998

Kenny-Caffey syndrome is part of the CATCH 22 haploinsufficiency cluster.

We report four sibs with Kenny-Caffey syndrome in a consanguineous Bedouin family. The first two died in the neonatal period while the remaining affected brother and sister had all the characteristic clinical, biochemical, and radiological abnormalities of the syndrome. These included severe pre- and postnatal growth retardation, cortical thickening of the tubular bones with medullary stenosis, eye abnormalities, facial dysmorphism, hypocalcaemia, and low levels of parathyroid hormone. The children also showed intracranial calcification, impaired neutrophil phagocytosis, increased proportion of B lymphocytes, reduced CD4 and CD8 subpopulations of T lymphocytes, and inhibited transformation in response to Candida antigen. Fluorescence in situ hybridisation (FISH) was applied to blood lymphocyte metaphase spreads from these two Bedouin sibs and their parents using probe D22S75 (Oncor), specific for the DiGeorge critical region on chromosome 22q11.2. The presence of 22q11.2 haploinsufficiency was identified in the affected sibs, which was transmitted from the phenotypically normal mother. The present report widens the spectrum of CATCH 22 microdeletion to accommodate Kenny-Caffey syndrome.

Abnormalities, Multiple↗

PubMed2002

PHACE syndrome: new views on diagnostic criteria.

The association of large facial hemangiomas with posterior fossa malformations and vascular anomalies has been termed the PHACE syndrome. It is characterized by the association of posterior fossa malformations, hemangiomas, arterial anomalies, coarctation of the aorta and other cardiac defects, and eye abnormalities. Since most articles focus on isolated case reports, an extended retrospective literature review of all reports of large hemangiomas with associated abnormalities of the central nervous system and other malformations was performed to examine the clinical features, and other not as yet reported associated anomalies. Reports were found on 59 patients with PHACE syndrome, to which we added ten cases of our own. The Dandy-Walker syndrome is the most common CNS abnormality reported in association with PHACE syndrome and was seen in 48 (81 %) patients. Arterial malformations were found in 13 (22 %) cases; only 11 patients (19 %) had structural arterial abnormalities without associated Dandy-Walker complex. As published, about one third of patients (31 %) had further ophthalmologic abnormalities, and cardiac anomalies, including coarctation of the aorta. Subglottic hemangiomas were seen in 4 (7 %) patients and ventral developmental defects also in 3 cases. In seven of 59 patients (12 %) with PHACE syndrome, intracranial hemangiomas were present. This study demonstrates that among other CNS abnormalities, special attention should be given to intracranial hemangiomas which seems to be a peculiar phenotype of PHACE syndrome. We therefore suggest that a sixth criterion should be added to the five minimal inclusion criteria for PHACE syndrome. The inclusion criteria would then be: arterial abnormalities or/and intracranial hemangiomas. On the basis of our experience with our patients and with those previously reported, we stress the importance of using contrast-enhanced imaging to detect intracranial lesions.

Abnormalities, Multiple↗

PubMedDate not supplied

PHACE syndrome: report of one case.

PHACE syndrome indicates a neurocutaneous syndrome including Posterior fossa malformation, large facial Hemangioma, Arterial malformation, Coarctation of the aorta and/or other Cardiac anomalies, and Eye abnormalities. We here report a female infant who presented a giant facial hemangioma. Dandy-Walker malformations with hydrocephalus was found subsequently. We treated the hemangioma with prednisolone, methylprednisolone, interferon-alpha, and local injections of corticosteroid. Encephalomalacia was found later and it was attributed to carotid artery anomalies. Brain image studies, thorough ophthalmologic and cardiac examinations are strongly recommended in infants with large, plaquelike facial hemangiomas. Carotid angiography should also be considered if carotid artery anomalies are suspected.

Abnormalities, Multiple↗

PubMed1977

Association of ocular, cervical, and cardiac malformations.

Association of ocular, cervical, and cardiac anomalies is discussed. A case with severe congenital heart disease, unusual Duane's retraction syndrome, classified here as atypical typical, and Klippel-Feil anomaly is described. To alert the physicians to such an association of congenital malformations and for nosological purposes this entity may be called oculo-cervico-cardiac syndrome. Importance of the association of heart and eye abnormalities is stressed and syndromes with associated ocular and cardiac anomalies are briefly discussed.

Abnormalities, Multiple↗

PubMedDate not supplied

Delayed gastric emptying and chronic diarrhea in a patient with oculodentodigital dysplasia syndrome.

A patient with oculodentodigital dysplasia (ODDD) syndrome was evaluated because of complaints of intermittent diarrhea of many years duration. Gastrointestinal manifestations have not been routinely described in patients with ODDD, which is a hereditary disorder characterized by abnormal eye findings, defective tooth enamel, various phalangeal aberrations, a distinctive facial appearance, and skeletal dysplasias. Steatorrhea was documented, but the usual methods for investigating this were thwarted by the patient's abnormal gastric anatomy and poor gastric motility. A combined endoscopic-fluoroscopic, guidewire-directed intubation procedure was performed to permit study of the small bowel. Pancreatic function was normal, and culture of an aspirate from the jejunum revealed a mixed bacterial flora. Treatment for presumed small bowel bacterial overgrowth with antibiotics and a reduced fat diet brought relief of diarrheal symptoms and produced weight gain. The clinical approach to this particular patient and the relationship between the ODDD syndrome and the described gastrointestinal anomalies are discussed.

Abnormalities, Multiple↗

PubMed2002

Generating mouse models of retinal disease using ENU mutagenesis.

We used the chemical mutagen, N-ethyl-N-nitrosourea, to induce random point mutations in the germline of the mouse strain C57BL/6 in order to generate models of retinal diseases. 1163 mutagenised first generation mice produced using this approach were examined for eye abnormalities. Approximately one-third (412) presented with some form of ocular abnormality. Most changes were unilateral and confined to the anterior segment of the eye. Less than 10% (44) of identified changes affected the posterior segment of the eye. 21 mice with varying ocular abnormalities, including 17 with retinal changes, were bred to produce second generation mice to confirm genetic inheritance. Genetic inheritance was confirmed in several of these lines including three with retinal changes.

Animals↗

PubMed2006

Detection of an Alu insertion in the POMT1 gene from three French Walker Warburg syndrome families.

Walker Warburg syndrome (WWS) is the most severe of a group of multiple congenital disorders known as lissencephaly type II ( LIS Type II) associated with congenital muscular dystrophy and eye abnormalities. The POMT1 gene is the most frequently affected found in 20% of patients with WWS. We describe five fetuses with WWS in three non-related families carrying a same mutation in the POMT1 gene. All fetuses presented with tetra ventricular hydrocephaly, and arachnoidal neuroglial ectopia and cortical dysplasia characteristic of LIS type II. We performed sequencing of the POMT1 gene on fetal DNA. The five fetuses were found to share an insertion of an inversed Alu repeated DNA element within exon 3 of the POMT1 gene, all at the heterozygous state except one at the homozygous state. This mutation was associated with a common transition c.2203 C > T (p.Arg735Cys) in exon 20 on the same allele and similar intragenic haplotype, suggesting that the three families could be related or indicating a possible founder effect in France. Insertions of Alu sequences, which are rarely found in coding regions, have occasionally been reported to cause other genetic diseases. However, this is the first report of a retrotransposon insertion in the POMT1 gene associated with WWS.

Abnormalities, Multiple↗

PubMed1988

Teratogenic effects of first-trimester cyclophosphamide therapy.

Intravenous cyclophosphamide was administered for severe exacerbation of systemic lupus erythematosus to a patient not known to be in the first trimester of pregnancy. The patient received no other medication except prednisone. Her neonate was born with multiple anomalies, including absent thumbs, cleft palate, low-set ears, and multiple eye abnormalities. These anomalies probably reflect teratogenic effects of cyclophosphamide, and indicate that judgment is required before its use in the first trimester. Furthermore, this case illustrates the need for effective contraception and repetitive pregnancy testing when potentially teratogenic agents are administered to presumably nonpregnant women in the reproductive age group.

Abnormalities, Drug-Induced↗

PubMed2006

Multifocal objective perimetry compared with Humphrey full-threshold perimetry in patients with optic neuritis.

BACKGROUND: The aim of the study is to compare multifocal visual evoked potential (mfVEP) objective perimetry with Humphrey full-threshold visual field (HVF) perimetry, in the assessment of patients with optic neuritis (ON). METHODS: We assessed 16 patients with clinically diagnosed ON. A comparison was made between the HVF and mfVEP, based on the global severity indices of both tests and number and topography of significant abnormalities detected. The latency data and inter-eye asymmetry findings on the mfVEP were also evaluated. RESULTS: From a total of 128 quadrants analysed in the 16 patients (100 affected, 28 unaffected eyes), HVF perimetry identified a scotoma in 39/128 (30.5%) quadrants, all of which were in affected eyes; the mfVEP detected a scotoma in 68/128 (53.1%) quadrants using amplitude and/or asymmetry data (XV2=7.2485, P=0.0071). Latency plots on the mfVEP identified a significant latency deviation cluster in 20/25 (80%) affected eyes. Abnormalities were also detected in 4/7 (57%) unaffected eyes. The global severity indices in the affected eyes showed a high correlation between the two tests (r=0.73). CONCLUSIONS: The mfVEP detected more abnormalities in patients with ON than HVF perimetry. The use of latency recordings as well as combined amplitude and asymmetry plots is advantageous and has the potential to detect abnormalities not otherwise detected on HVF perimetry.

Adolescent↗

PubMed2003

Extracellular matrix and nuclear abnormalities in skeletal muscle of a patient with Walker-Warburg syndrome caused by POMT1 mutation.

Walker-Warburg syndrome (WWS) is an autosomal recessive disorder characterized by congenital muscular dystrophy, structural eye abnormalities and severe brain malformations. We performed an immunohistochemical and electron microscopy study of a muscle biopsy from a patient affected by WWS carrying a homozygous frameshift mutation in O-mannosyltransferase 1 gene (POMT1). alpha-Dystroglycan glycosylated epitope was not detected in muscle fibers and intramuscular peripheral nerves. Laminin alpha2 chain and perlecan were reduced in muscle fibers and well preserved in intramuscular peripheral nerves. The basal lamina in several muscle fibers showed discontinuities and detachment from the plasmalemma. Most nuclei, including myonuclei and satellite cell nuclei, showed detachment or complete absence of peripheral heterochromatin from the nuclear envelope. Apoptotic changes were detected in 3% of muscle fibers. The particular combination of basal lamina and nuclear changes may suggest that a complex pathogenetic mechanism, affecting several subcellular compartments, underlies the degenerative process in WWS muscle.

Antigens, CD↗

PubMedDate not supplied

Electrophysiology findings in a large family with central areolar choroidal dystrophy.

PURPOSE: To perform an electrophysiological study of central areolar choroidal dystrophy (CACD) in the affected members of a four generation family. METHODS: Eight affected family members from the last three generations of a family affected by CACD were assessed by full-field electroretinograms (rod response, maximal combined response, oscillatory potentials, single-flash cone response and 30 Hz flicker responses) and electro-oculograms. In addition three members of the youngest generation, who were visually asymptomatic, had pattern visual evoked potentials (PVEPs) and pattern electroretinograms (PERGs) performed. Affected status had been determined previously by genetic analysis. RESULTS: Three youngest generation family members, who were considered affected by genetic haplotype analysis, had no visible optic nerve or retinal abnormalities. All of these subjects had abnormal PVEPs and PERGs in both eyes. Abnormalities were also detected in two of these subject's Rod ERGs, Cone ERGs and one of these subject's Maximal ERGs and 30 Hz ERGs. Electrophysiological examination in the older generations demonstrated a similar, more advanced, cone and rod dysfunction. CONCLUSIONS: All affected, but clinically normal, youngest generation patients had bilaterally abnormal PVEPs and PERGs. In CACD the PVEP and PERG proved to be the most sensitive electrophysiological tests of preclincial macular dysfunction, 3/3 subjects abnormal. ERG recording to ISCEV guidelines were very useful in these cases; 7/8 subjects abnormal. The EOG was less useful; 4/8 subjects abnormal. CACD produces a widespread photoreceptor dysfunction in its later stages.

Adolescent↗

PubMed2000

Localisation of the gene responsible for fechtner syndrome in a region <600 Kb on 22q11-q13.

Fechtner syndrome is an autosomal dominant disorder which has been thought to be a variant of Alport syndrome. It is characterised by nephritis, sensorineural hearing loss and eye abnormalities, as well as by macrothrombocytopenia and polymorphonuclear inclusion bodies. Recently, the Fechtner syndrome has been mapped in a 5.5 Mb region on the long arm of chromosome 22 by linkage analysis in an extended Israeli family. We describe here the genetic refinement of the Fechtner critical interval to a region less than 600 Kb by linkage analysis performed in a large Italian pedigree. The presence of several recombination events allowed the disease gene to be localised between markers D22S278 and D22S426, in a region containing only two non-recombinant markers, D22S1173 and D22S283. This interval, spanning <600 Kb on genomic DNA, has been entirely sequenced and contains six known and three putative genes.

Abnormalities, Multiple↗

PubMed2006

Posterior cranial fossa tumors in young adults.

OBJECTIVE/HYPOTHESIS: This retrospective study presents our experience on the posterior cranial fossa tumors in young adults during the past 15 years. METHODS: From 1991 to 2005, 16 (0.8%) of 2,091 young adults (range, 16-29 years) with dizziness/vertigo, hearing loss, or tinnitus were diagnosed with posterior fossa tumor. Each patient underwent a battery of audiovestibular tests and image study. RESULTS: Audiometry revealed sensorineural hearing loss in 12 patients (75%). Spontaneous nystagmus was disclosed in eight patients (50%), consisting of bilateral gaze nystagmus in five, unilateral gaze nystagmus in two, and downbeat nystagmus in one. Electronystagmographic examination displayed abnormal eye tracking test in 75% and abnormal optokinetic nystagmus test in 81% of cases. Magnetic resonance imaging scan demonstrated space-occupying lesions at the cerebellopontine angle in 11, cerebellum in two, brainstem in two, and jugular fossa in one. Diagnoses consisted of vestibular schwannoma and neurofibromatosis II in eight patients (50%), glial neoplasm (including astrocytoma, ependymoma, glioma) in four patients (25%), epidermoid cyst in three patients, and glomus jugulare tumor in one patient. At study close, excluding one lost patient, three patients died as a result of recurrent or residual tumor at the primary site. Restated, 12 of 15 (80%) patients were alive. CONCLUSIONS: Unlike predominant medulloblastoma in children, the most frequent posterior fossa tumor in young adults is vestibular schwannoma and neurofibroma. However, the second most frequent one in young adults is glial neoplasm as opposed to meningioma in adults.

Adolescent↗