| Literature DB >> 35254497 |
Dominika Oziębło1,2, Sang-Yeon Lee3,4, Marcin Ludwik Leja1,2, Byung Yoon Choi5,6, Monika Ołdak7, Anna Sarosiak1,2, Natalia Bałdyga1, Henryk Skarżyński8, Yehree Kim9, Jin Hee Han9, Hyo Soon Yoo3,9, Min Hyun Park10,4.
Abstract
Novel hearing loss (HL) genes are constantly being discovered, and evidence from independent studies is essential to strengthen their position as causes of hereditary HL. To address this issue, we searched our genetic data of families with autosomal dominant HL (ADHL) who had been tested with high-throughput DNA sequencing methods. For CD164, only one pathogenic variant in one family has so far been reported. For LMX1A, just two previous studies have revealed its involvement in ADHL. In this study we found two families with the same pathogenic variant in CD164 and one family with a novel variant in LMX1A (c.686C>A; p.(Ala229Asp)) that impairs its transcriptional activity. Our data show recurrence of the same CD164 variant in two HL families of different geographic origin, which strongly suggests it is a mutational hotspot. We also provide further evidence for haploinsufficiency as the pathogenic mechanism underlying LMX1A-related ADHL.Entities:
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Year: 2022 PMID： 35254497 DOI： 10.1007/s00439-022-02443-y
Source DB: PubMed Journal: Hum Genet ISSN： 0340-6717 Impact factor: 4.132