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Article

MCM2 mutation causes autosomal dominant nonsyndromic hearing loss (DFNA70): novel variant in the second family.

Journal of genetics - 1 Jan 2022

Zeraatpisheh Zahra, Sichani Ali Saber, Kamal Neda, Khamirani Hossein Jafari, Zoghi Sina, Ehsani Elham, Mohammadi Sanaz, Tabei Seyed Sajjad, Dastgheib Seyed Alireza, Bagher Tabei Seyed Mohammad, Dianatpour Mehdi

Abstract excerpt

Pathogenic variants in MCM2 could result in mild to severe sensorineural hearing loss in the affected individuals (deafness, autosomal dominant 70; DFNA70; OMIM: 616968), an extremely rare autosomal dominant progressive disorder. Here, we report a novel missense variant (NM_004526:c.388C>T, p.R130C; Clinvar: SCV002072508) in MCM2 in an Iranian family identified by whole-exome sequencing and confirmed by Sanger...

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PMID: 35652205

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