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Results for “Dominant inheritance”

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PubMed2006

Cantu syndrome in a woman and her two daughters: Further confirmation of autosomal dominant inheritance and review of the cardiac manifestations.

Cantu syndrome, or hypertrichosis-osteodysplasia-cardiomegaly syndrome, is a rare disorder of unknown etiology, associated with hypertrichosis, characteristic facial features, skeletal abnormalities, cardiomegaly, and occasional pericardial effusions. Although autosomal recessive inheritance was originally proposed, a man with three affected children has been reported, making autosomal dominant inheritance likely. We report on a woman and her two daughters with Cantu syndrome, further confirming dominant inheritance. All three of our patients have cardiac involvement, and symptomatic pericardial effusions requiring surgical intervention occurred in the mother and one of her daughters. Chromosome microarray analysis was normal in one of the girls. The etiology of the cardiomegaly and pericardial effusions in Cantu syndrome is unknown. We review all previously reported cases of Cantu syndrome and the associated cardiac manifestations.

Adolescent↗
PubMed1990

Familial iron overload with possible autosomal dominant inheritance.

A 96 member Melanesian kindred with 31 cases of iron overload is reported. Liver biopsies from 19 of these patients showed features similar to those of genetic haemochromatosis in Caucasians, but in contrast to the previous reported HLA-linked autosomal recessive pattern of inheritance for haemochromatosis, this family shows a pattern that is most consistent with autosomal dominant inheritance. This is suggested by involvement of three and possibly four consecutive generations, with a high frequency of transmission from parents to children and equal gender distribution. Linkage and segregation analysis supported dominant inheritance, with no demonstrable HLA linkage.

Female↗
PubMed2006

RNA based gene therapy for dominantly inherited diseases.

There are numerous examples in the literature of gene therapy applications for recessive disorders. There are precious few instances, however, of studies conducted to treat dominantly inherited pathologies. The reasons are simple: there are fewer cases of dominantly inherited diseases on one hand, but mostly it is far easier to correct recessive mutations than dominant ones. Typically recessive mutations cause a loss of (or reduced) gene function which can be compensated for by introduction of a replacement allele into the cell. In contrast, dominant negative mutations not only display impaired function, but also exhibit a novel one that is pathologic to the cell. Treating these conditions by gene therapy implies silencing the dominant allele without altering the expression of the wild-type gene. We describe here different strategies aimed at silencing dominant mutations through mRNA destruction and provide examples of their application to known autosomal dominant diseases. An overview of the most common molecular tools (antisense DNA and RNA, ribozymes and RNA interference) suitable to utilize these strategies is also presented and we discuss the relevant aspects involved in the choice of a particular approach in a gene therapy experiment.

Animals↗
PubMed1989

Congenital oculo-facial paralysis (Moebius syndrome): evidence of dominant inheritance in two families.

Moebius syndrome is usually sporadic. The few familial cases reported in the literature have autosomal dominant inheritance, with absence of the associated congenital malformations often described in the sporadic form. Here we report two families with more than one member affected by congenital, unilateral paresis of cranial nerves, transmitted with autosomal dominant inheritance.

Adult↗
PubMed1995

Mitochondrial encephalomyopathy with autosomal dominant inheritance: a clinical and genetic entity of mitochondrial diseases.

We report a Japanese family with chronic progressive external ophthalmoplegia (CPEO) with autosomal dominant inheritance, and review 54 reported CPEO patients in seven families (including the present family) with autosomal dominant inheritance and mtDNA deletions in the skeletal muscle. Mean age at onset in the CPEO was 26 years, which is older than that in published solitary cases. In addition to blepharoptosis and external opthalmoplegia, proximal muscle atrophy and weakness were found in 62%, hearing loss in 25%, and ataxia in 17% of the patients. Retinal degeneration was not found, and cardiac involvement was very rare. mtDNA deletions in the muscle were multiple and large scale, and all such deletions were located in the non-D-loop region. Autosomal dominant CPEO has unique clinical features which differ from those of solitary CPEO, and is associated with multiple large-scale mtDNA deletions. Thus, autosomal dominant CPEO can be considered a clinical and genetic entity of mitochondrial diseases.

Base Sequence↗
PubMed1997

Dominantly inherited epidermal acantholysis in dogs, simulating human benign familial chronic pemphigus (Hailey-Hailey disease).

We report on dominantly inherited epidermal acantholysis in three dogs, a sire and two female offspring. The skin lesions were characterized by hairless, hypertrophic plaques. Histopathologically, these lesions showed epidermal hyperplasia with individual enlargement of keratinocytes, extensive acantholysis and minimal dyskeratosis. Ultrastructural analysis revealed that attachment plaques of desmosomes were still intact while some tonofilaments were detached from them in early lesions; there were well-developed microvilli at dissociated cell surfaces. The data imply that these animals have undergone a process similar to human benign familial chronic pemphigus (BFCP). Immunohistochemical examination revealed that staining for E-cadherin and actin variably remained in dissociated keratinocytes. Focal intracellular staining for desmosomal glycoproteins and desmosomal proteins were observed within the dissociated keratinocytes. This dominantly inherited acantholytic disease in dogs could be a useful animal model for investigating the pathogenesis of BFCP in humans.

Acantholysis↗
PubMed1997

Erythroblastic inclusions in dominantly inherited beta thalassemias.

While the precipitation of unstable variant beta-globin chains has been implicated as a major pathogenic mechanism in dominantly inherited beta thalassemia, their instability and presence in intra-erythroblastic inclusions have not been conclusively shown. We report the investigation of two cases of dominantly inherited beta thalassemia due to heterozygosity for the beta-codon 121 G-T mutation. In one case, we were able to demonstrate the presence of an abnormal beta-globin chain in both peripheral blood reticulocytes and bone marrow erythroblasts, and to assess its stability in relation to the substantial amounts of mutant beta mRNA transcript. The serum transferrin receptor (TfR) level was markedly increased, an indication of increased erythropoietic activity. In both cases, we could show by immunoelectron microscopy that the intra-erythroblastic inclusion bodies, a prominent feature of diseases in this category, contained not only precipitated alpha-globin chains, but also beta chains. The data confirm previous suggestions that the cellular pathology underlying this group of beta thalassemias is related to the synthesis of highly unstable beta-globin chain variants, which fail to form functional tetramers and precipitate intracellularly with the concomitant excess alpha chains, leading to increased ineffective erythropoiesis.

Adult↗
PubMed1995

Dominant inheritance in two families with familial Mediterranean fever (FMF).

Familial Mediterranean fever (FMF) is an autosomal-recessive disease which affects almost exclusively people of Mediterranean and Middle Eastern origin. We examined the possibility of a dominant inheritance of FMF among our 3,000 patients in Israel. Two hundred forty FMF patients were members of 77 families in which the disease affected more than one generation. In 75 of these families the occurrence of FMF in more than one generation was found to be consistent with a recessive mode of inheritance due to a high gene frequency (q) and consanguinity among parents of the patients. In 2 families, one of Ashkenazi and the other of Georgian Iraqi origin, in which FMF occurred in 4 consecutive generations, the mode of inheritance could be explained only by autosomal-dominant inheritance.

Ethnicity↗
PubMed2001

Pseudo-dominant inheritance and exon 2 triplication in a family with parkin gene mutations.

The authors report an Italian family with pseudo-dominant inheritance of parkinsonism attributable to parkin gene mutations. The father (disease onset at age 57 years) was homozygous for a triplication of exon 2 that is so far unique. The unaffected mother was heterozygous for deletions of exons 3 and 4, and the son (onset at age 31 years) was a compound heterozygote carrying both mutations. Thus, pseudo-dominant inheritance of parkin gene mutations has to be considered in early-onset parkinsonism, and sensitive screening techniques, such as semiquantitative multiplex PCR, should be applied.

Adult↗
PubMed1999

Autosomal dominant inheritance of Barber-Say syndrome.

We report on a mother-to-son transmission of the Barber-Say syndrome, a finding that strongly supports dominant inheritance of this rare disorder. The characteristic facial changes, small ears, hirsutism, and redundant skin of our patients are consistent with the findings of five reported cases. The mother also had cleft palate and mild conductive hearing loss. Her son had a shawl scrotum, primary hypospadias, and mild hearing loss by report. The inheritance of this rare disorder has not been established. The parent-to-child transmission in this family suggests X-linked or autosomal dominant inheritance. The parents of the patient reported by Santana et al. [1993: Am. J. Med. Genet. 47:20-23] were consanguineous, suggesting autosomal recessive inheritance in other cases.

Abnormalities, Multiple↗
PubMed1996

Keratouveitis--two families with a dominantly inherited disorder.

Herein we describe a relapsing acute keratouveitis without known aetiology. The disorder has been found in two families and shows an autosomal dominant inheritance. Acute anterior uveitis can be traced for five generations in one of these families. In the same family there is also an association to an autosomal dominantly inherited vascular disorder (Osler-Rendu-Weber disease). The anterior uveitis has an acute onset, a recurrent pattern and a mild activity. The associated keratitis is seen as a midstromal thin flat disc in the central cornea, sometimes with folds in Descemet's membrane as a sign of oedema. This causes a change in refraction and a mild reduction of the corrected visual acuity. There is a prompt response to topical steroid treatment, but the corneal changes have in one case become permanent. Clinical documentation and the mode of inheritance is presented.

Acute Disease↗
PubMed1976

Loss of a homologous group of proteins in a dominantly inherited ectodermal malformation.

Hair from mice bearing the dominantly inherited Naked trait (NN) and from normal (NN) mice of the same inbred strain was separated into its major protein components by standard techniques. The relative amounts of proteins in these components were then determined by a regression method from the amino acid composition of the hair samples and of the fractions into which they had been separated. The results indicated that the amount of soluble fibril in Naked-mouse hair is decreased. Polyacrylamide-gel electrophoresis of this fraction prepared from the hair of both normal and Naked mice revealed that all protein bands present in the normal are also present in the Naked mice. However, a densitometric scan of the gels at 280 nm showed that the soluble fibril fraction from Naked-mouse hair is deficient in several proteins which, on amino acid analysis, were found to contain 31% glycine and 10% tyrosine. Gel filtration of S-carboxymethylkerateine prepared from normal and mutant hair showed that the mutant hair is deficient in a heterogeneous, low-molecular-weight fraction also rich in glycine and tyrosine. Our present data do not reveal the mechanism whereby a single gene locus modulates the production of several different proteins.

Amino Acids↗
PubMed2005

[Clinical study of a single congenital stapes malformation with possible X-linked dominant inheritance].

OBJECTIVES: To study the etiology of one Chinese pedigree with familial conductive deafness which was demonstrated involvement of X-linked dominant inheritance. METHOD: History of illness, physical examinations, pure-tone audiometry and acoustic and immittance measurement were obtained from members of this family. Some subjects received computed tomography scan of the temporal bone. The proband accepted chromosome karyotype analysis and operation with artificial stapes prosthesis. RESULT: The patients had normal physical examinations. Pedigree analysis indicated that they distributed four continuous generations and the number of female patients was larger than that of male patients. Only female patients can transmit the mutant gene to their later generations. Their audiological evaluation showed conductive hearing loss and acoustic immittance measurement showed A form curve. Two of them who underwent high-resolution CT scan had normal inner structures. In the operation for proband, we found that her stapes which was flat cylinder shape lacking staple footplate. Furthermore, her chromosome showed 46, XX. CONCLUSION: Patients with characteristics of congenital non-syndrome stapes fixation were identified in one large Chinese family. Pedigree analysis suggested a possible X-linked dominant inheritance in this pedigree.

Adolescent↗
PubMed1983

Autosomal dominant inheritance of the Aarskog syndrome.

Individuals with the Aarskog syndrome have shortness of stature, round face, hypertelorism, short fingers and hands, and flat feet; males have a shawl scrotum. Pedigrees have consistently suggested X-linked inheritance, although the possibility of autosomal dominant inheritance was not excluded. We present a father and two sons affected with the Aarskog syndrome. Thus, the Aarskog phenotype either is genetically heterogeneous or a sex-influenced autosomal dominant trait as shown by the deficiency of affected females. An ascertainment bias for males could be owing to the shawl scrotum. We have reviewed the literature and tabulated findings in 82 previously reported cases.

Abnormalities, Multiple↗
PubMed1979

Ultrastructural and cytochemical observations in a case of dominantly inherited hypertrophic (Charcot-Marie-Tooth) neuropathy.

Ultrastructural and cytochemical studies were carried out on the sural nerve of a 6 1/2 year old girl with dominantly inherited hypertrophic (Charcot-Marie-Tooth) neuropathy. Electron microscopy revealed a paucity of myelinated fibers, with inappropriately thin myelin sheaths and onion-bulb formations associated with those fibers that were myelinated. In some cases the nodal axolemma was folded so as to form irregular excrescences. At other nodes, the non-myelinated gap was enlarged. Following staining with ferric ion and ferrocyanide, dense precipitates were observed on the cytoplasmic surface of the axolemma at some nodes of Ranvier, as in normal peripheral axons. At other nodes, staining was attenuated or absent. The latter result is similar to our findings in the dy/dy dystrophic mouse. These results are consistent with the hypothesis that, in dominantly inherited hypertrophic neuropathy, there are abnormalities of structure of the axolemma, in addition to an abnormality of the myelin sheath.

Axons↗
PubMed2000

Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome.

Most cases with Kabuki syndrome (KS) were reported sporadically. Recently, a few familial cases of KS were reported. This report provides further evidence that the KS is inherited as a dominant trait with variable expressivity. The proposita is an 18-month-old girl with facial findings characteristic of Kabuki syndrome, prominent fingertip-pads, a midsagittal cleft of vertebral body D4, hypotonia, and psychomotor retardation. Her mother had a similar facial appearance, prominent, cup-shaped ears, an abnormal dentition, early breast development, and low-normal intelligence. Because mother and daughter both had evident Kabuki syndrome, we conclude that KS in this family is inherited as a dominant trait. Further family history supports this finding. Microscopic examination of the hair of the proposita shows abnormalities consisting of trichorrhexis nodosa, twisting of the hairshafts, and irregularity of the diameter of the hair, as was described recently in a patient with KS. This could be another occasional finding in this syndrome, but further studies are required. The presence of abnormal hair, nails, and the commonly described tooth abnormalities in KS further suggest ectodermal involvement in this syndrome.

Abnormalities, Multiple↗
PubMed1983

Pheochromocytomas and ultimobranchial (C-cell) neoplasms in the bull: evidence of autosomal dominant inheritance in the Guernsey breed.

Pheochromocytomas and ultimobranchial (C-cell) neoplasms were diagnosed at a high frequency in a family of Guernsey bulls. The incidence supported the hypothesis of autosomal dominant inheritance of the neoplasms. These two neoplasms also occur in man as multiple endocrine adenomatosis type 2, which has autosomal dominant inheritance.

Adrenal Gland Neoplasms↗