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PubMed2000

Association of EXT1 and EXT2, hereditary multiple exostoses gene products, in Golgi apparatus.

We prepared the specific antibodies for EXT1 and EXT2, hereditary multiple exostoses (HME) gene products, and characterized their expression, subcellular localization, and protein association among EXT members. Biochemical analyses indicate that EXT1 and EXT2 can associate and form homo/hetero-oligomers in vivo with or without HME-linked mutations, EXT1 (R340C) and EXT2 (D227N), when exogenously expressed in COS-7 cells. An immunocytochemical analysis showed that both EXT1 and EXT2 localized in Golgi apparatus, irrespective of HME mutations. An immunohistochemical analysis on developing bones further showed that both EXT1 and EXT2 were concomitantly expressed in hypertrophic chondrocytes of forelimb bones from 1-day-old neonatal mouse, but down-regulated in maturing chondrocytes of developing cartilage from 21-day-old mouse. Taken together with the recent finding that EXTs encode for the glycosyltransferase required for the synthesis of heparan sulfate [Lind, T., Tufaro, F., McCormick, C., Lindahl, U., and Lindholt, K. (1998) J. Biol. Chem. 273, 26265-26268], our results implied a molecular basis that a HME-linked mutation found in EXT genes could interfere the physiological function(s) of EXT homo/hetero-oligomers as glycosyltransferases in the developing bones of HME patients.

Animals↗
PubMed1999

Identification of mutation in a candidate gene for hereditary multiple exostoses type II.

OBJECTIVES: To identify possible mutations in our previously cloned candidate gene for hereditary multiple exostoses type II (EXT2) in affected members of EXT families so as to confirm that it is the disease-causing gene. METHODS: The mutation was detected first by single strand conformational polymorphism (SSCP) of all coding exons of the candidate gene and then by sequencing analysis. RESULTS: After analyzing 37 patients from 20 Chinese EXT families by SSCP and DNA sequencing analysis, one 2-bp insertion mutation was identified in this candidate gene in affected members of an EXT family. This mutation resulted in the frameshift and generated a truncated gene product consisting of 105 amino acids. CONCLUSIONS: The identification of the mutation in the candidate gene indicates that this novel gene is responsible for EXT2 (one of the disease-causing gene of EXT).

Amino Acid Sequence↗
PubMed2004

[Three patients with hereditary multiple exostoses and malignant degeneration of an osteochondroma located in the pelvis].

In three male patients with hereditary multiple exostoses (HME), aged 50, 29 and 31 years, peripheral low-grade chondrosarcoma in the pelvic region led to swelling or pain. In the first patient, curative resection was not feasible because of the size and extension of the tumour. However, rapid tumour growth and unbearable pain necessitated a debulking procedure 16 months later. Histopathologic examination revealed a highly malignant dedifferentiated chondrosarcoma. The patient died two years after initial presentation as a result of local tumour growth. In the second patient, treatment consisted of wide resection of the tumour. Five years after the surgery the patient was free of disease. The third patient was initially treated by intralesional resection, followed by partial hemipelvectomy because of residual tumour. Thirteen months later, a local recurrence occurred that was treated by wide excision. Four years after the partial hemipelvectomy the patient was both pain-free and disease-free. Patients with HME are at increased risk for malignant degeneration of pelvic osteochondroma to chondrosarcoma. Periodic control of patients with pelvic osteochondromas is advised, preferably once every two years.

Adult↗
PubMedDate not supplied

Hip arthroscopy in hereditary multiple exostoses: A new perspective of treatment.

The cases of 2 children (9 and 11 years old) with hereditary multiple exostoses disease are presented. The lesions were located primarily in the acetabular fossa of the left hip and caused pain and limitation of range of motion. Hip arthroscopy was performed to remove the exostoses without damaging the articular surfaces and the Y cartilage. After the procedure, the pain disappeared and normal range of motion was recovered for both children. Conventional surgery would have required hip dislocation to access these lesions with an increased risk of femoral head necrosis. These cases constitute a new and interesting application of hip arthroscopy.

Acetabulum↗
PubMed2005

Hereditary multiple exostoses of the ribs: an unusual cause of hemothorax and pericardial effusion.

A 6-year-old girl with hereditary multiple exostoses presented with spontaneous hemothorax and pericardial effusion. Chest computed tomographic scan showed left-sided costal exostoses protruding into the left side of the chest. She underwent successful thoracoscopic resection of 3 left rib exostoses and made a full recovery. This report illustrates this rare clinical scenario and reviews the previously published reports of this complication of costal exostoses.

Child↗
PubMed2002

Cervical osteochondroma as a cause of spinal cord compression in a patient with hereditary multiple exostoses: Computed tomography and magnetic resonance imaging findings.

Spinal cord compression is a rare but extremely serious complication of hereditary multiple exostoses (HME). Imaging of the spine is important for surgical planning and follow up. We present CT and MR findings in a male patient with HME who developed spinal cord compression from a cervical osteochondroma. Complete recovery was achieved following surgery.

Cervical Vertebrae↗
PubMed1997

Cervical spinal cord compression in hereditary multiple exostoses. Report of a case and a review of the literature.

Spinal cord compression is an extremely serious complication of hereditary multiple exostoses (HME). A case of HME with compression of the cervical spinal cord is reported. Complete recovery following surgery was achieved. A review of the relevant literature revealed 51 previous cases of HME with cord/cauda equina compression. Most patients were under 30 years of age with more men affected than women. The family history was positive in 60%. The cervical and thoracic areas were predominantly affected, with the symptoms usually developing slowly. Recovery following surgery is to be expected in the majority of cases. In patients with HME and suffering from neurological symptoms, the possibility of spinal cord compression should be considered. Prompt diagnosis and surgical excision provide the best prognosis.

Adolescent↗
PubMed1980

The foot and ankle in multiple hereditary exostoses.

Twenty-two cases of multiple hereditary exostoses revealed pathological changes in two areas: the first group caused by epiphyseal disturbances, and the second group due to mechanical problems created by the exostoses. The epiphyseal disturbances resulted in ankle valgus, shortened metatarsals, and angular deformities of the necks of the metatarsals. The exostoses produced local tenderness, synostosis of the medical subtalar facet resulting is loss of subtalar motion, and asymptomatic synostosis of the lower tibial fibular syndesmosis.

Adolescent↗
PubMed2001

Hereditary multiple exostoses: from genetics to clinical syndrome and complications.

OBJECTIVE: To give an overview of genetic, clinical and radiological aspects in two families over four generations with known hereditary multiple exostoses (HME). METHODS AND MATERIAL: After linkage analysis in both families to localize the defective gene, mutation analysis was performed in these genes to identify the underlying mutation. In the 31 affected individuals, location, number and morphology and evolution of exostosis, evolution of remodeling defects at the metaphysis, and the extent of possible complications were evaluated on clinical and imaging (plain radiography, computed tomography (CT), and magnetic resonance imaging (MRI)) data over a lifetime period. RESULTS AND CONCLUSIONS: Both families demonstrate the gene defect in the same EXT-2 gene locus on chromosome 11p. Exostoses are preferentially located in the lower extremity (hip, knee and lower leg), humerus, and forearm. Any other bone may be involved, except for the calvaria of the skull and the mandible. Exostoses are rather sessile than pedunculated. Exostosis is rarely present at birth but develops gradually and may persist to grow slowly after closure of the growth plates. Preferential expression of the remodeling defect was seen in the hip, distal femur (trumpet-shaped metaphysis) and forearm (shortening of the ulna with secondary bowing of the radius and development of a pseudo-Madelung deformity). These radiological manifestations start at the age of 4-5 years and become more obvious as the enchondral bone formation progresses with age. Reported complications in these families consist of local entrapment phenomenons (vessel, tendon, nerve), frictional bursitis, and sarcomatous transformation. MRI was able to suggest these complications and is the imaging technique of choice in the evaluation of symptomatic exostoses.

Chromosome Mapping↗
PubMed1989

[Neurologic complications in hereditary multiple exostoses].

Based on the radiological and clinical findings in two patients suffering from hereditary multiple cartilaginous exostoses, the importance of identification and x-ray confirmation of neurological signs within the framework of the overall disease patterns is shown. This is a rare complication, bat it is highly important for the patient. Early clarification is imperative; if surgical intervention is not instituted directly, a closely meshed control network is considered mandatory to prevent severe irreversible neurological deficits.

Adult↗
PubMed1989

Spontaneous hemothorax in a patient with hereditary multiple exostoses.

A case of spontaneous hemothorax in a 7-year-old child secondary to erosion of the diaphragm by an exostosis coming from the left sixth rib is reported. This rare case of hemothorax with hereditary multiple exostoses is made even rarer by the concomitant perforation of the diaphragm.

Child↗
PubMed2001

Successful removal of a giant recurrent chondrosarcoma of the thoracic wall in a patient with hereditary multiple exostoses.

Chondrosarcoma represents the most common malignant tumour of the chest wall, with a tendency for local recurrence after resection. Here we report the successful complete resection of a giant, local recurrent chondrosarcoma of the chest wall (max. diameter 25 cm), in a patient with hereditary multiple exostoses, who had had a wide resection 8 years before. Clinical features and surgical management are described.

Bone Neoplasms↗
PubMed2005

Acute spinal cord compression in hereditary multiple exostoses.

Osteocartilaginous exostoses are benign bone tumors frequently found in the metaphysis of long bones but rarely in the spine. Four patients with acute spinal cord decompensation due to vertebral exostoses spinal cord compression have been previously described in the literature. We report an additional case of rapidly evolving spinal cord compression due to a cervical osteochondroma in a patient with hereditary multiple exostoses (HME), also known as Bessel Hagen disease. Careful analysis of the 5 cases suggested to us that patients with HME should have a systematic spinal imaging screening, in order to prevent rapid neurological decompensation. A minimal risk surgical procedure can be performed at a time of election.

Adult↗
PubMed1994

An association between psoriasis and hereditary multiple exostoses. A clue for the mapping of a psoriasis susceptibility gene?

Chronic plaque psoriasis affects approximately 1.6% of the U.K. population. Population, family and twin studies all strongly suggest an important genetic component in the pathogenesis of the disease, although genetic linkage studies have, so far, failed to identify susceptibility genes. We describe a family in which psoriasis cosegregates through three generations with a known autosomal dominant disorder, hereditary multiple exostoses (HME). A major locus for HME has recently been mapped to chromosome 8q. Observations in this family may provide a mapping clue for a psoriasis susceptibility gene.

Adult↗
PubMed1998

A novel splice site mutation of the EXT2 gene in a Finnish hereditary multiple exostoses family. Mutations in brief no. 197. Online.

Hereditary multiple exostoses is a dominantly inherited disease characterized by multiple benign osteochondromas. The affected individuals have an increased risk of developing sarcoma. A large Finnish family with hereditary multiple exostosis was analyzed to find the disease-causing mutation. Blood samples were obtained from 35 family members, including 21 affected and 14 unaffected individuals. Using 2-point linkage analysis the EXT phenotype was shown to be linked to the recently cloned EXT2 gene on chromosome 11p11. The coding region of the gene was sequenced and a previously unreported splice site mutation found. This G to T transversion within a 5-prime splice donor site following exon 6 was shown to cause aberrant splicing of RNA. The described change is considered to be a novel disease-causing mutation in the EXT2 gene.

Alternative Splicing↗
PubMed2005

[Hereditary multiple exostoses. Molecular genetic analysis of the EXT1 gene in an unusual family].

Hereditary multiple exostosis (HME), a disorder inherited in an autosomal dominant manner, is characterized by multiple projections of bone, mainly at the extremities. The risk of malignant transformation of the exostoses is estimated to be up to 2%. The most common underlying cause of the disease involves mutations in either the EXT1 or the EXT2 gene. We report on the clinical and molecular findings in a family affected with HME.A mother and her three children from different partnerships, all clinically diagnosed with HME, were referred for genetic counseling. Subsequently, molecular analysis of the EXT1 gene was performed according to standard procedures. We identified a mutation in the EXT1 gene in all four affected family members (delA in codon 133). This mutation has not been previously described and is suggested to cause the disease in this family. Identification of disease causing mutations in patients with HME and their relatives can help to improve the clinical management of tumor prevention, early tumor detection, and orthopedic therapy.

Adolescent↗
PubMed2004

Two-color multiplex ligation-dependent probe amplification: detecting genomic rearrangements in hereditary multiple exostoses.

Genomic deletions and duplications play an important role in the etiology of human disease. Versatile tests are required to detect these rearrangements, both in research and diagnostic settings. Multiplex ligation-dependent probe amplification (MLPA) is such a technique, allowing the rapid and precise quantification of up to 40 sequences within a nucleic acid sample using a one-tube assay. Current MLPA probe design, however, involves time-consuming and costly steps for probe generation. To bypass these limitations we set out to use chemically synthesized oligonucleotide probes only. The inherent limitations of this approach are related to oligonucleotide length, and thus the number of probes that can be combined in one assay is also limited. This problem was tackled by designing a two-color assay, combining two sets of probes, each amplified by primers labeled with a different fluorophore. In this way we successfully combined 28 probes in a single reaction. The assay designed was used to screen for the presence of deletions and duplications in patients with hereditary multiple exostoses (HME). Screening 18 patients without detectable point mutations in the EXT1 and EXT2 genes revealed five cases with deletions of one or more exons: four in EXT1 and one in EXT2. Our results show that a two-color MLPA assay using only synthetic oligonucleotides provides an attractive alternative for probe design. The approach is especially suited for cases in which the number of patients to be tested is limited, making it financially unattractive to invest in cloning.

Chromosome Aberrations↗