Categoría: Enfermedades Raras
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Loss-of-function variant in the LRR domain of SLITRK2 implicated in a neurodevelopmental disorder
Background: Neurodevelopmental disorders are characterized by different combinations of intellectual disability (ID), communication and social skills deficits, and delays in achieving motor or language milestones. SLITRK2 is a postsynaptic cell-adhesio…
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Expanding the genetic spectrum of mitochondrial diseases in Tunisia: novel variants revealed by whole-exome sequencing
Introduction: Inherited mitochondrial diseases are the most common group of metabolic disorders caused by a defect in oxidative phosphorylation. They are characterized by a wide clinical and genetic spectrum and can manifest at any age. In this study, …
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Selective screening for inborn errors of metabolism using tandem mass spectrometry in West Kazakhstan children: study protocol
Data on the prevalence of most inborn errors of metabolism are still unavailable in Kazakhstan. The study aims to perform selective screening for hereditary metabolic diseases among patients aged from 1 day to 18 years in western Kazakhstan using the L…
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Genetics and clinical phenotypes in common variable immunodeficiency
Common variable immunodeficiency (CVID) is one of the most common symptomatic groups of inborn errors of immunity. In addition to infections resulting from insufficient levels of immune globulins and antibodies, many patients develop inflammatory or au…
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Identification of gene mutations associated with type 1 diabetes by next-generation sequencing in affected Palestinian families
Introduction: Diabetes Mellitus is a group of metabolic disorders characterized by hyperglycemia secondary to insulin resistance or deficiency. It is considered a major health problem worldwide. T1DM is a result of a combination of genetics, epigenetic…
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Hereditary deafness carrier screening in 9,993 Chinese individuals
Background: Preconception or prenatal carrier screening plays an important role in reproductive decision-making, but current research on hereditary deafness is limited. This study aimed to investigate the carrier frequencies of common deafness genes in…
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Novel cis compound heterozygous variants in MYO6 causes early onset of non-syndromic hearing loss in a Chinese family
Background: Mutations in the MYO6 gene have been associated with both autosomal dominant non-syndromic hearing loss (ADNSHL) and autosomal recessive non-syndromic hearing loss (ARNSHL), with a cumulative identification of 125 pathogenic variants. To in…
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Case Report: From epilepsy and uterus didelphys to Turner syndrome-associated dysgerminoma
Dysgerminoma is a rare occurrence in Turner syndrome patients without Y chromosome mosaicism or hormone therapy during puberty. We present a unique case of a 33-year-old nulliparous Chinese woman with intermittent epilepsy and Mullerian anomalies carry…
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The burden of cystic fibrosis in North Africa
Background: Over 200 pathogenic variants in the cystic fibrosis transmembrane conductance regulator (CFTR) gene are associated with cystic fibrosis (CF)—the most prevalent autosomal recessive disease globally, the p.Phe508del variant being the most com…
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Characterization of cardiac involvement in patients with LMNA splice-site mutation–related dilated cardiomyopathy and sudden cardiac death
Introduction:LMNA splicing mutations occur in 9.1% of cases with cardiac involvement cases, but the phenotype and severity of disease they cause have not yet been systematically studied. The aim of this study was to understand the clinical and pathogen…