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Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome.

Genes - 29 Jul 2021

Kopp Julia, Has Cristina, Hotz Alrun, Grünert Sarah C, Fischer Judith

Abstract excerpt

Autosomal recessive Chanarin-Dorfman syndrome (CDS, MIM #275630) is defined as a neutral lipid storage disease with ichthyosis (NLSDI) due to an accumulation of lipid droplets in a variety of different tissues including liver and muscle cells, leucocytes, fibroblasts and nerve cells It is caused by biallelic mutations in the abhydrolase domain containing 5 gene (ABHD5, MIM *604780) which is localized on the short...

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Share to 1-Acylglycerol-3-Phosphate O-Acyltransferase
Share to Chromosomes, Human, Pair 3

Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

Share to Genes, Recessive

Share to Homozygote

Share to Ichthyosiform Erythroderma, Congenital

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Share to Lipid Metabolism, Inborn Errors

Share to Muscular Diseases

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Identifiers

PMID: 34440338
DOI: 10.3390/genes12081164
PMCID: PMC8391107

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Maternal Isodisomy of Chromosome 3 Combined with a De Novo Mutation in the ABHD5 Gene Causes Autosomal Recessive Chanarin-Dorfman Syndrome.PMID 34440338Read ↗

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