Newly defined peroxisomal disease with novel ACBD5 mutation
| Autor: | Ozlem Gorukmez, Orhan Gorukmez, Cengiz Havali, Sevil Dorum |
|---|---|
| Rok vydání: | 2021 |
| Předmět: |
Genetics
Mutation business.industry Endocrinology Diabetes and Metabolism media_common.quotation_subject Nonsense Disease Peroxisome Gene mutation medicine.disease medicine.disease_cause Endocrinology Pediatrics Perinatology and Child Health Peroxisomal disorder medicine business Gene Exome sequencing media_common |
| Zdroj: | Journal of Pediatric Endocrinology and Metabolism. 35:11-18 |
| ISSN: | 2191-0251 0334-018X |
| DOI: | 10.1515/jpem-2020-0352 |
| Popis: | 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 Sequencing (Sophia Genetics). |
| Databáze: | OpenAIRE |
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