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

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作者
Zahra Zeraatpisheh
Ali Saber Sichani
Neda Kamal
Hossein Jafari Khamirani
Sina Zoghi
Elham Ehsani
Sanaz Mohammadi
Seyed Sajjad Tabei
Seyed Alireza Dastgheib
Seyed Mohammad Bagher Tabei
Mehdi Dianatpour
机构
[1] Shiraz University of Medical Sciences,Epilepsy Research Center
[2] Shiraz University of Medical Sciences,Department of Medical Genetics
[3] Shiraz University of Medical Sciences,Student Research Committee
[4] Shiraz University of Medical Sciences,Comprehensive Medical Genetic Center
[5] Shiraz University of Medical Sciences,Maternal
[6] Shiraz University of Medical Sciences,fetal Medicine Research Center
来源
Journal of Genetics | 2022年 / 101卷
关键词
nonsyndromic hearing loss; deafness; autosomal dominant 70; DFNA70; whole-exome sequencing; hearing loss; genetic hearing loss.;
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摘要
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 sequencing. The heterozygous variant (NM_004526:c.388C>T, p.R130C) in MCM2 was identified in the proband and his mother. The proband is a nine-year-old male born to nonconsanguineous parents. The proband was characterized by nonsyndromic hearing loss, while his mother showed a mild form of the disorder. This study reports the second disease-causing variant in MCM2 in the world and confirms that hearing loss arising from variants in MCM2 is nonsyndromic. Nevertheless, as was reported in the previous family, phenotype could vary among the patients with the same variant.
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