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Results for “Dominant inheritance”

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At least 127 records · Page 7Linked to original sources
PubMed1985

Cerebellar degeneration in dominantly inherited spastic paraplegia.

The clinical features of five affected members in three generations of a family with dominantly inherited Strumpell's spastic paraplegia are described, together with the pathological findings in two cases. The late presentation and slow progression of the disease encompass features of the types I and II of other authors illustrating the heterogeneous expression of the disorder. Cerebellar involvement was evident clinically and pathologically.

Cerebellar Ataxia↗
PubMed1993

Reduced cerebral cortical but elevated striatal concentration of somatostatin-like immunoreactivity in dominantly inherited olivopontocerebellar atrophy.

Somatostatin-like immunoreactivity (SLI) was measured in the brains of nine patients with dominantly inherited olivopontocerebellar atrophy (OPCA), who all had a marked deficit of the cholinergic marker choline-acetyltransferase (ChAT) in the cerebral cortex and striatum. Mean concentrations of SLI in OPCA were significantly reduced by 42-58% in parietal and occipital cortices and frontal cortical eye fields, but were normal in other cortical areas, including two subdivisions of the temporal cortex which show marked depletions of both SLI and ChAT in Alzheimer's disease. This dissociation of SLI and ChAT indicates that a cortical cholinergic deficit does not invariably lead to reduction of somatostatin. In the caudate nucleus, the region of OPCA brain having the most severe ChAT deficit (-81%), SLI levels were significantly elevated by 46% and were negatively and significantly correlated with ChAT activities (r = -0.66). The SLI alterations could be due to abnormal somatostatin metabolism or release, or an increased number of somatostatin-containing neurons and could contribute to the brain dysfunction of OPCA.

Adult↗
PubMed1977

Aspartate-taurine imbalance in dominantly inherited olivopontocerebellar atrophy.

Amino acids were measured in autopsied brain from two patients who died with a dominantly inherited form of olivopontocerebellar atrophy. Neuropathologic changes found in the brain of these patients suggested a loss of cerebellar climbing fibers. The contents of aspartic acid, gamma-aminobutyric acid, and homocarnosine were reduced in the cerebellar cortex and the dentate nucleus, while taurine content was markedly elevated in the same brain regions. These findings are compatible with the possibility that aspartic acid is the excitatory synaptic transmitter of the climbing fibers and taurine is the inhibitory neurotransmitter of one or more types of interneurons in the cerebellum.

Adult↗
PubMed2004

The KBG syndrome: confirmation of autosomal dominant inheritance and further delineation of the phenotype.

We report on a Turkish family in which the father and his two sons were diagnosed as having the KBG syndrome. Large upper central incisors were the diagnostic finding in all three patients along with mental retardation, cryptorchidism, skeletal abnormalities, and short stature. Our report clearly confirms that the inheritance is autosomal dominant in KBG syndrome, although a high male to female ratio has been observed in published cases.

Abnormalities, Multiple↗
PubMed2005

Functional analysis of SAND mutations in AIRE supports dominant inheritance of the G228W mutation.

Autoimmune polyendocrinopathy candidiasis ectodermal dystrophy (APECED) is a rare disorder caused by mutations in the autoimmune regulator gene (AIRE) and characterized by a variable combination of organ-specific autoimmune diseases. Studies on AIRE-deficient mice suggest that AIRE is an important factor in the establishment and maintenance of self-tolerance. The AIRE protein contains several structural domains often found in transcriptional regulators and functions as a transcriptional transactivator in vitro. To date, more than 50 patient mutations have been identified in the coding region of the AIRE gene. So far, APECED has been reported to be inherited in an autosomal recessive manner. However, in contrast to all other AIRE mutations, a novel mutation c.682T>G (p.G228W) in the DNA-binding and/or multimerization domain SAND was recently described to be inherited in a dominant fashion. We analyzed the effects of mutant AIRE proteins containing the patient mutations c.682T>G (p.G228W) and c.755C>T (p.P252L) located in the SAND domain on the properties of the wild-type AIRE in a heterozygous situation in vitro. In addition to the patient mutations, we analyzed the effects of a double mutation [c.727A>G;c.728A>C;c.739C>G;c740G>C] (p.K243A;R247A) of positively charged amino acids in the SAND domain. Of the mutants studied, only c.682T>G (p.G228W) mutant changed the subcellular localization and in addition severely disrupted the transactivating capacity of the wild-type AIRE. Our results indicate that the c.682T>G (p.G228W) mutant AIRE protein acts with a dominant negative effect by binding to the wild-type AIRE, thus preventing the protein from forming the complexes needed for transactivation.

Animals↗
PubMed2004

Dominantly inherited progressive pseudorheumatoid dysplasia with hypoplastic toes.

OBJECTIVE: To present four related patients with progressive pseudorheumatoid dysplasia (PPsRD) each with distinctive history, unique phenotype and some peculiar radiographic findings. RESULTS AND CONCLUSIONS: The history was characterised by weather-dependent articular pain. The unique phenotypic features were hypoplasia/dysplasia of one or two toes. Peculiar radiographic findings were hypoplasia of the 3rd and 4th metatarsals, platyspondyly with rectangular shape of the lumbar spinal canal, progressive narrowing of the joint spaces and early synovial chondromatosis. Finally, the condition was inherited as a dominant trait. This constellation of abnormalities constitutes a distinct form of PPsRD. PPsRD must be differentiated from other bone dysplasias, specifically spondyloepiphyseal dysplasias, autosomal dominant spondylarthropathy, juvenile rheumatoid arthritis and osteoarthritis.

Adolescent↗
PubMed1988

[Idiopathic familial erythrocytosis. Report on a family with autosomal dominant inheritance].

An autosomal erythrocytosis, inherited as a dominant, occurred in seven members of a family. The propositus was first diagnosed as having erythrocytosis at 26 years of age. He had headaches and marked plethora. Polycythaemia vera and secondary erythrocytosis of known cause were excluded. Erythropoietin level was not elevated. Two of his three children were also found to have erythrocytosis. As in this family, the disease is characterized in middle age by hypertension, cardiovascular and thromboembolic phenomena, as well as abnormal bleeding. For over eight years the propositus has been successfully treated with repeated venous blood lettings.

Adult↗
PubMed1997

Segregation analysis of prostate cancer in Sweden: support for dominant inheritance.

Several epidemiologic studies have shown familial aggregation of prostate cancer. To assess the nature of familial clustering of prostate cancer, a complex segregation analysis was performed on a population-based sample of 2,857 nuclear families ascertained through an affected father diagnosed with prostate cancer in Sweden during 1959-1963. The segregation analysis, using a large, unselected population of prostate cancer families, revealed that the observed clustering of prostate cancer was best explained by a high risk allele inherited in a dominant mode, with a high population frequency (1.67%) and a moderate lifetime penetrance (63%). This study confirms the result from one earlier published segregation analysis and provides the context for interpreting the recently published linkage of hereditary prostate cancer families to chromosome 1q 24-25 (HPC1).

Adult↗
PubMed1989

Dominantly inherited childhood gigantism resembling Sotos' syndrome.

Excessive growth in infancy and onset of puberty at age four was observed in a boy with features resembling Sotos syndrome. Early development of secondary sexual characteristics and advanced osseous maturation were observed. The family history was significant; excessive weight gain tended to occur in female family members in association with rapid growth in infancy and childhood. A delayed insulin response to glucose was observed in both mother and sister, and diabetes developed during his mother's gestation. These observations suggest that undetermined factors associated with excessive growth may be inherited as a dominant trait with variable expression.

Child↗
PubMed1985

Hereditary motor-sensory neuropathy (HMSN): possible X-linked dominant inheritance.

The inheritance of the hereditary motor and sensory neuropathies (HMSN) is usually autosomal dominant. We studied a kinship with a pattern of X-linked dominant inheritance. The phenotype was similar to HMSN of the "intermediate" type. Men were more severely affected than women, and hypertrophic nerves were not found. Nerve conduction was very slow in men, but it was mildly slow or normal in women. No male-to-male transmission was found in six generations.

Adolescent↗
PubMed1976

Hypophosphataemic osteomalacia and Fanconi syndrome of adult onset with dominant inheritance. Possible relationship with diabetes mellitus.

Adult-onset osteomalacia with multiple renal tubular defects and generalized aminoaciduria is uncommon, and where familial it is characteristically an autosomal recessive disorder. This paper describes a kindred in which the syndrome has appeared in four successive generations, apparently inherited in a dominant manner, and possibly associated with diabetes mellitus. The proposita had hypophosphataemia, renal glycosuria, proteinuria and generalized aminoaciduria, and at the age of 22 developed symptoms of osteomalacia which responded to treatment with oral phosphate. Her father had been similarly affected: renal glycosuria was first noted when he was 24, and 12 years later he developed diabetes mellitus from which he died. One sister, aged 31, has renal glycosuria, aminoaciduria and hypophosphataemia without bone disease. In the three preceding generations at least seven other individuals had crippling bone disease and profound muscle weakness of early adult onset; in four, preterminal polydipsia was recorded, and others had renal glycosuria or diabetes mellitus. Three of the five children in the latest generation have slight proteinuria but not other detectable abnormality. The possible association between these renal tubular defects and diabetes mellitus is discussed.

Adolescent↗
PubMed1991

Corticosteroid-responsive dominantly inherited neuropathy in childhood.

We describe three children with corticosteroid-responsive inflammatory demyelinating polyneuropathy from families with dominantly inherited neuropathy. There were atypical clinical, electrophysiologic, and pathologic characteristics that suggested a coexistent inflammatory demyelinating neuropathy and that should alert the clinician to the possibility of an associated acquired, potentially treatable disorder.

Child↗
PubMed2002

Central areolar choroidal dystrophy associated with dominantly inherited drusen.

AIM: To describe the clinical and genetic aspects of a retinal dystrophy that combines central areolar choroidal dystrophy (CACD) and autosomal dominantly inherited drusen. METHODS: The members of three unrelated families who demonstrated the rare combination of CACD and dominant drusen were clinically and angiographically investigated. In addition, DNA samples from the members of these families were screened for the Arg142Trp mutation in the peripherin/retinal degeneration slow (RDS) gene. RESULTS: The severity of the CACD/dominant drusen maculopathy was age related and the expression of the phenotype varied. All affected individuals carried the Arg142Trp mutation in the peripherin/RDS gene. The clinical spectrum ranged from CACD without noticeable drusen in four individuals to the fully expressed phenotype of CACD with drusen in 14 individuals. CONCLUSION: CACD macular dystrophy is associated with dominant drusen in most individuals carrying the Arg142Trp mutation in the peripherin/RDS gene in the three families described. There are no individuals with dominant drusen in the absence of the Arg142Trp mutation, suggesting that the Arg142Trp mutation is one of the factors predisposing to drusen development.

Adult↗
PubMed1998

A homeobox gene, HLXB9, is the major locus for dominantly inherited sacral agenesis.

Partial absence of the sacrum is a rare congenital defect which also occurs as an autosomal dominant trait; association with anterior meningocoele, presacral teratoma and anorectal abnormalities constitutes the Currarino triad (MIM 176450). Malformation at the caudal end of the developing notochord at approximately Carnegie stage 7 (16 post-ovulatory days), which results in aberrant secondary neurulation, can explain the observed pattern of anomalies. We previously reported linkage to 7q36 markers in two dominantly inherited sacral agenesis families. We now present data refining the initial subchromosomal localization in several additional hereditary sacral agenesis (HSA) families. We excluded several candidate genes before identifying patient-specific mutations in a homeobox gene, HLXB9, which was previously reported to map to 1q41-q42.1 and to be expressed in lymphoid and pancreatic tissues.

Base Sequence↗
PubMedDate not supplied

Peters' anomaly: dominant inheritance in one pedigree and dextrocardia in another.

Two case reports are described to illustrate the unusual occurrence of dominant inheritance of Peters' anomaly and the concomitant occurrence of Peters' anomaly with colobomatous microphthalmos and dextrocardia. Studies of additional families are necessary to determine conclusively the pathogenesis, genetic mode of inheritance, ocular and systemic associated malformations, and proper management of this complex entity.

Abnormalities, Multiple↗