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Loss-of-function variants in C3ORF52 result in localized autosomal recessive hypotrichosis
PurposeLocalized autosomal recessive hypotrichosis (LAH) has been associated with pathogenic variants in DSG4 , encoding a desmosomal protein as well...
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Deficiency of the human cysteine protease inhibitor cystatin M/E causes hypotrichosis and dry skin
PurposeWe aimed to assess the biological and clinical significance of the human cysteine protease inhibitor cystatin M/E, encoded by the CTS6 gene,...
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Posterior cervical congenital dermal sinus tract: case report and review of literature
Background and importanceCongenital dermal sinus tract (DST) is a rare spinal dysraphism characterized by a persistent tract lined by epithelial...
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Expanding the Phenotypic Spectrum of APMR4 Syndrome Caused by a Novel Variant in LSS Gene
Alopecia intellectual disability syndromes 4 (APMR4) is a very rare autosomal recessive condition caused by a mutation in the LSS gene present on...
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Clinical diagnosis of genetic disorders at both single-nucleotide and chromosomal levels based on BGISEQ-500 platform
Most variations in the human genome refer to single-nucleotide variation (SNV), small fragment insertions and deletions, and genomic copy number...
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Whole exome sequencing revealed variants in four genes underlying X-linked intellectual disability in four Iranian families: novel deleterious variants and clinical features with the review of literature
Aim and ObjectiveIntellectual disability (ID) is a heterogeneous condition affecting brain development, function, and/or structure. The X-linked mode...
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Alopecia
Alopecia, either spontaneous or self-induced, is a common presenting sign in cats. Definitions of alopecia and hypotrichosis and the clinical...
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Identification of SOFT syndrome caused by a pathogenic homozygous splicing variant of POC1A: a case report
BackgroundPathogenic variants in POC1A led to SOFT syndrome and variant POC1A-related (vPOC1A) syndrome. SOFT syndrome is a rare primordial dwarfism...
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PRSS8, encoding prostasin, is mutated in patients with autosomal recessive ichthyosis
Ichthyosis is a genetically heterogeneous genodermatosis characterized by severely rough, dry and scaly skin. We report two consanguineous families...
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Prenatal Genetic Testing for X-Linked Hypohidrotic Ectodermal Dysplasia
Introduction: Hypohidrotic ectodermal dysplasia (HED) is an X-linked recessive disorder, characterised by abnormally developed ectodermal tissues...
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Prenatal diagnosis of complete paternal uniparental isodisomy for chromosome 3: a case report
BackgroundUniparental disomy (UPD) is defined as an inheritance of two chromosomes from only one of the parents with no representative copy from the...
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Myhre syndrome in adulthood: clinical variability and emerging genotype-phenotype correlations
Myhre syndrome (MS, MIM 139210) is a rare multisystemic disorder caused by recurrent pathogenic missense variants in SMAD4 . The clinical features...
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Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy
Generalized lipodystrophy is a feature of various hereditary disorders, often leading to a progeroid appearance. In the present study we identified a...
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Genetische Krankheiten
Rassebedingte Prädispositionen sind für eine Reihe von Hautkrankheiten bei Katzen dokumentiert, und es gibt verschiedene Berichte über neuartige...
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Biallelic pathogenic variants in the lanosterol synthase gene LSS involved in the cholesterol biosynthesis cause alopecia with intellectual disability, a rare recessive neuroectodermal syndrome
PurposeLanosterol synthase ( LSS ) gene was initially described in families with extensive congenital cataracts. Recently, a study has highlighted LSS ...
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Lymphovascular Genomics and Proteomics, Clinical Syndromes, and Cancer Metastasis
The number of genetic mutations that cause lymphedema and other diseases of the lymphatic system has significantly grown in recent years. This...