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Article

Newly defined peroxisomal disease with novel ACBD5 mutation.

Journal of pediatric endocrinology & metabolism : JPEM - 27 Jan 2022

Gorukmez Ozlem, Havalı Cengiz, Gorukmez Orhan, Dorum Sevil

Abstract excerpt

Peroxisomal disorders are a heterogeneous group of diseases caused by mutations in a large number of genes. One of the genetic disorders known to cause this situation is ACBD5 (Acyl-CoA binding-domain-containing-5) gene mutations that have been described in recent years. Here, we report two siblings with a novel homozygous nonsense variation (c.1297C>T, p.Arg433*) in ACBD5 (NM_145698.4) gene using Clinical Exome...

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Identifiers

PMID: 34668366
DOI: 10.1515/jpem-2020-0352

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