A Novel Homozygous Mutation in the MYO5B Gene Associated With Normal-Gamma-Glutamyl Transferase Progressive Familial Intrahepatic Cholestasis.
| Autor: | Uyar Aksu N; Pediatric Gastroenterology, Health Sciences University Derince Training and Research Hospital, Kocaeli, TUR., Görükmez O; Genetics, Bursa State Hospital, Bursa, TUR., Görükmez Ö; Genetics, Bursa State Hospital, Bursa, TUR., Uncuoğlu A; Pediatric Gastroenterology, Kocaeli University, Kocaeli, TUR. |
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| Jazyk: | angličtina |
| Zdroj: | Cureus [Cureus] 2021 Nov 07; Vol. 13 (11), pp. e19326. Date of Electronic Publication: 2021 Nov 07 (Print Publication: 2021). |
| DOI: | 10.7759/cureus.19326 |
| Abstrakt: | The genetic defect of MYO5B is usually associated with microvillus inclusion disease (MVID). MYO5B mutations are one of the rare causes of progressive familial intrahepatic cholestasis (PFIC) with normal/low gamma-glutamyl transferase (GGT). In this report, we discuss the case of a nine-month-old girl with low-GGT cholestasis whose next-generation sequencing (NGS) showed a homozygous splicing variation (c.3045+3A>T) on the MYO5B (NM_001080467) gene, which was a novel mutation. We identified that this mutation had a disease-causing effect in silico analysis. Competing Interests: The authors have declared that no competing interests exist. (Copyright © 2021, Uyar Aksu et al.) |
| Databáze: | MEDLINE |
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