Update on CD164 and LMX1A genes to strengthen their causative role in autosomal dominant hearing loss

Autor: Dominika Oziębło, Sang‐Yeon Lee, Marcin Ludwik Leja, Anna Sarosiak, Natalia Bałdyga, Henryk Skarżyński, Yehree Kim, Jin Hee Han, Hyo Soon Yoo, Min Hyun Park, Byung Yoon Choi, Monika Ołdak
Rok vydání: 2022
Předmět:
Zdroj: Human Genetics. 141:445-453
ISSN: 1432-1203
0340-6717
DOI: 10.1007/s00439-022-02443-y
Popis: 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.686CA; 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.
Databáze: OpenAIRE
Externí odkaz: