Search results for "Recessive"
showing 10 items of 85 documents
Severe neonatal onset of glycogenosis type IV: Clinical and laboratory findings leading to diagnosis in two siblings
2005
Glycogenosis type IV is an autosomal recessive disease, exceptionally diagnosed at birth: only very few reports of the fatal perinatal neuromuscular form have been described. We report on two sibling male newborns who died at 10 and 4 weeks of age with clinical signs of a systemic storage disease. Prenatal history included polyhydramnios, reduced fetal movements and fetal hydrops, and Caesarean section was performed at 36 weeks of gestational age because of fetal distress. At birth, both babies showed severe hypotonia, hyporeflexia and no spontaneous breathing activity. They never showed active movements, sucking and swallowing and were respirator-dependent until death. A muscle biopsy reve…
Early and late clinical landmarks of corneal dystrophies
2020
Abstract Corneal dystrophies (CDs) represent a heterogenous group of genetic diseases (Lisch and Weiss, 2019). The International Committee of Classification of Corneal Dystrophies (IC3D) distinguishes between 22 distinct forms of corneal dystrophy (CD) which are predominantly autosomal dominant, although autosomal recessive and X-chromosomal dominant and recessive patterns do exist. A detailed corneal examination of as many affected family members as possible can show the phenotypic differences of the various generations. There are few publications which describe the different CDs with regard to the early and late phenotypes. According to early and late phenotype, three types of CD are gene…
A novel EDA variant causing X-linked hypohidrotic ectodermal dysplasia: Case report
2021
Abstract Hereditary ectodermal dysplasias are a complex group of inherited disorders characterised by abnormalities in two or more ectodermal derivatives (skin, nails, sweat glands, etc.). There are two main types of these disorders – hidrotic and hypohidrotic/anhidrotic ectodermal dysplasias. Hypohidrotic ectodermal dysplasia (HED) or Christ-Siemens-Touraine syndrome (OMIM: 305100 ) occurs in 1 out of 5000–10,000 births [19] and has an X-linked recessive inheritance pattern (X-linked hypohydrotic ectodermal dysplasia – XLHED) [2] . The main cause of XLHED is a broad range of pathogenic variants in the EDA gene (HGNC:3157, Xq12-13) which encodes the transmembrane protein ectodysplasin-A [4]…
Broad spectrum of Fabry disease manifestation in an extended Spanish family with a new deletion in the GLA gene
2012
Background. Fabry disease (FD) is an X-linked inherited disease based on the absence or reduction of lysosomal-galactosidase (Gla) activity. The enzymatic defect results in progressive impairment of cerebrovascular, renal and cardiac function. Normally, female heterozygote mutation carriers are less strongly affected than male hemizygotes aggravating disease diagnosis. Method. Close examination of the patients by renal biopsy, echo- and electrocardiography and MRI. Blood work and subsequent DNA analysis were carried out utilizing approved protocols for PCR and Sequencing. MLPA analysis was done to unveil deletions within the GLA gene locus. Quantitative detection of Glycolipids in patient p…
Evaluation of linkage of bipolar affective disorder to chromosome 18 in a sample of 57 German families.
1999
Previously reported linkage of bipolar affective disorder to DNA markers on chromosome 18 was reexamined in a large sample of German bipolar families. Twenty-three short tandem repeat markers were investigated in 57 families containing 103 individuals with bipolar I disorder (BPI), 26 with bipolar II disorder (BPII), nine with schizoaffective disorder of the bipolar type (SA/BP), and 38 individuals with recurrent unipolar depression (UPR). Evidence for linkage was tested with parametric and non-parametric methods under two definitions of the affected phenotype. Analysis of all 57 families revealed no robust evidence for linkage. Following previous reports we performed separate analyses afte…
The clinical spectrum of alpha-L-iduronidase deficiency.
1985
We present five patients with alpha-L-iduronidase deficiency who do not have the typical Hurler or Scheie phenotypes; they are compared to 28 similarly atypical cases from the literature. Phenotypic differences are pointed out and intrafamilial similarities stressed. Among the various possible explanations for this situation, the existence of genetic compounds seems acceptable for some of the cases, but others seem to be caused by different mutations. The elucidation of these alternative possibilities from recent biochemical research is discussed.
Morphological studies in canine (Dalmatian) neuronal ceroid-lipofuscinosis.
1988
Dalmatian dogs may develop a neuronal or generalized ceroid-lipofuscinosis (NCL) which strongly resembles that seen in English setters, especially as to the ultrastructural changes and ubiquity of the stored lipopigments and the retinal pathology, while differing clinically from the disorder of English setters in that the disease has a longer course of up to 5 or 6 yr. Clinical onset is at about age 6 months; however, an unequivocal morphological diagnosis is possible between the 4th and 5th month of life in biopsied skin. Detailed data of additional investigations are in progress and are awaiting later publication. Thus, NCL in the Dalmatian dog, though not yet as thoroughly investigated a…
The autosomal recessive (Becker) form of myotonia congenita
1979
In the last two decades, two genetically distinct forms of myotonia congenita have been identified--an autosomal dominant and an autosomal recessive form. The purpose of this review is to describe the features that enable us to distinguish between these two forms in the absence of sufficient genetic data. Thus far, it can be concluded that the only probable difference between the two forms is in the fatty-acid pattern of muscle phospholipids. Clinical, histologic, ultrastructural, and electromyographic investigation may prove helpful, but they alone cannot provide a reliable means of identifying the genotype in an individual patient.
Estudio genético molecular del síndrome de Usher en España
2005
Usher syndrome (USH) associates deafness and retinitis pigmentosa (RP). It is a disease both clinically and genetically heterogeneous. It is inherited as an autosomal recessive trait and its prevalence makes it the most frequent association of hearing loss and RP. Clinically Usher syndrome is divided into type I (USH1), II (USH2) and III (USH3), according to the severity of hearing loss, age of onset of RP and the existence or not of vestibular dysfunction. There are at least 7 different localizations for USH1 and 5 genes have been identified. For USH2, 3 loci and 2 genes have been reported and USH3 is due to Clarin-1 gene. Our aim is to perform a clinical and genetic characterization of al…
Phenotype traits associated with different alleles at the RPS5 locus in Saccharomyces cerevisiae
1992
The RPS5 gene has been characterised through its ability to reduce invertase production by the SUC5 gene. In this paper we show that RPS5 acts by maintaining low levels of SUC5 mRNA. We also show that RPS5 acts on the SUC1 and SUC4 genes but not on SUC2 and SUC3, which are members of the SUC family. RPS5 also shows a pleiotropic effect on the amount of mitochondrial cytochromes.