Categoría: Enfermedades Raras
-
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…
-
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…
-
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…
-
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…
-
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…
-
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…
-
Next-generation sequencing testing in children with epilepsy reveals novel clinical, diagnostic and therapeutic implications
Introduction: Epilepsy is one of the commonest diseases in children, characterized by extensive phenotypic and genetic heterogeneity. This study was conducted to determine the diagnostic utility and to identify novel clinical and therapeutic implicatio…
-
Exploiting in silico structural analysis to introduce emerging genotype–phenotype correlations in DHCR24-related sterol biosynthesis disorder: a case study
Desmosterolosis is a rare sterol biosynthesis disorder characterized by multiple congenital anomalies, failure to thrive, severe developmental delay, progressive epileptic encephalopathy, and elevated levels of desmosterol caused by biallelic mutations…
-
Researchers uncover unexpected molecular pattern in fragile X syndrome
DECEMBER 27, 2023 by Perelman School of Medicine at the University of Pennsylvania Researchers have found new disrupted genes and an unexpected molecular pattern—dubbed BREACHes—related to fragile X syndrome (FXS), a genetic disorder estimated by the Centers for Disease Control and Prevention to impact about 1 in 7,000 males about 1 in 11,000 females. The study, by researchers…