Categoría: Brief Research Report
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Rare missense variants in NECTIN1 alter local protein structure and may contribute to non-syndromic cleft lip with or without palate
IntroductionOrofacial cleft is a congenital anomaly influenced by genetic and environmental factors. NECTIN1 encodes an adhesion protein critical for the adherens junctions and has been associated with orofacial clefts. This study aimed to investigate …
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Novel variants in LSS related hypotrichosis simplex 14
BackgroundHypotrichosis simplex (HS) is a rare form of hereditary alopecia caused by a variety of gene variants, with onset in childhood. Few studies regarding LSS-related HS(HS 14) have been reported and genotype–phenotype correlations in the LSS gene…
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Case Report: a novel PNPLA2 homozygous frameshift variant causing severe neutral lipid storage disease with myopathy (NLSDM) in a Moroccan patient
Neutral lipid storage disease with myopathy (NLSDM) is an ultra-rare autosomal recessive lipid metabolism disorder caused by PNPLA2 variants, leading to defective adipose triglyceride lipase (ATGL) function and pathological triglyceride accumulation in…
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Functional inactivation of MDR3 caused by a homozygous ABCB4 missense variant leading to liver failure
Progressive familial intrahepatic cholestasis (PFIC) is a rare hereditary liver disorder that is caused by defective hepatobiliary transport. Variants in ATP binding cassette 4 ( ), encoding phosphatidylcholine floppase MDR3, are a frequent cause; howe…