Novel compound heterozygote mutations of TJP2 in a Chinese child with progressive cholestatic liver disease
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چکیده
منابع مشابه
Novel compound heterozygote mutations in the ATP7B gene in an Iranian family with Wilson disease: a case report
BACKGROUND Wilson disease is an autosomal recessive disorder of copper transport and is characterized by excessive accumulation of cellular copper in the liver and other tissues because of impaired biliary copper excretion and disturbed incorporation of copper into ceruloplasmin. Hepatic failure and neuronal degeneration are the major symptoms of Wilson disease. Mutations in the ATP7B gene are ...
متن کاملNovel compound heterozygous mutations in ABCA4 in a Chinese pedigree with Stargardt disease
PURPOSE Stargardt disease (STGD) is a common macular dystrophy in juveniles that is commonly inherited as an autosomal recessive trait. Mutations in five genes (ABCA4, PROM1, ELOVL4, BEST1, and PRPH2) have been reported to be associated with STGD. In the present study, we aimed to identify the pathogenic mutations in affected members in a Chinese STGD pedigree. METHODS One patient was selecte...
متن کاملThree Novel Mutations in Iranian Patients with Tay-Sachs Disease
Background: Tay-Sachs disease (TSD), or GM2 gangliosidosis, is a lethal autosomal recessive neurodegenerative disorder, which is caused by a deficiency of beta-hexosaminidase A (HEXA), resulting in lysosomal accumulation of GM2 ganglioside. The aim of this study was to identify the TSD-causing mutations in an Iranian population. Methods: In this study, we examined 31 patients for TSD-causing m...
متن کاملReply: ‘Behr syndrome’ with OPA1 compound heterozygote mutations
Sir, The current report by Carelli and colleagues is a timely contribution the literature on autosomal dominant optic atrophy (DOA) (Carelli et al., 2014). Similar to a recently published Letter to the Editor in Brain by Bonneau et al. (2014), they describe the intriguing association of a Behr-like phenotype in an Italian family harbouring presumed compound heterozygous OPA1 mutations. The majo...
متن کاملLETTER TOTHE EDITOR ‘Behr syndrome’ with OPA1 compound heterozygote mutations
1 IRCCS Institute of Neurological Sciences of Bologna, Bellaria Hospital, Bologna, Italy 2 Neurology Unit, Department of Biomedical and NeuroMotor Sciences (DIBINEM), University of Bologna, Bologna, Italy 3 Institute of Neurology, Catholic University, Rome, Italy 4 Laboratory of Molecular Medicine, Research Children’s Hospital ‘Bambino Gesù’, Rome, Italy 5 Molecular Genetics Laboratory, Institu...
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ژورنال
عنوان ژورنال: BMC Medical Genetics
سال: 2019
ISSN: 1471-2350
DOI: 10.1186/s12881-019-0753-7