Homozygous novel truncating variant of CLPP associated with severe Perrault syndrome.

Autor: Faridi R; Laboratory of Molecular Genetics, NIDCD, NIH, Bethesda, Maryland, USA., Stratton P; Office of the Clinical Director, Intramural Research Program, NINDS, NIH, Bethesda, Maryland, USA., Salmeri N; Rehabilitation Medicine Department, Clinical Center, NIH, Bethesda, Maryland, USA., Morell RJ; Genomics and Computational Biology Core, NIDCD, NIH, Bethesda, Maryland, USA., Khan AA; National Centre of Excellence in Molecular Biology, University of the Punjab, Lahore, Pakistan., Usmani MA; Allama Iqbal Medical Research Center, Jinnah Burn and Reconstructive Surgery Center, University of Health Sciences, Lahore, Pakistan., Newman WG; Evolution, Infection and Genomics, University of Manchester, Manchester, UK., Riazuddin S; Allama Iqbal Medical Research Center, Jinnah Burn and Reconstructive Surgery Center, University of Health Sciences, Lahore, Pakistan., Friedman TB; Laboratory of Molecular Genetics, NIDCD, NIH, Bethesda, Maryland, USA.
Jazyk: angličtina
Zdroj: Clinical genetics [Clin Genet] 2024 May; Vol. 105 (5), pp. 584-586. Date of Electronic Publication: 2024 Mar 07.
DOI: 10.1111/cge.14514
Abstrakt: A female proband and her affected niece are homozygous for a novel frameshift variant of CLPP. The proband was diagnosed with severe Perrault syndrome encompassing hearing loss, primary ovarian insufficiency, abnormal brain white matter and developmental delay.
(© 2024 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. This article has been contributed to by U.S. Government employees and their work is in the public domain in the USA.)
Databáze: MEDLINE
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