MCM2 mutation causes autosomal dominant nonsyndromic hearing loss (DFNA70): novel variant in the second family
ZAHRA ZERAATPISHEH1 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
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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.
ZAHRA ZERAATPISHEH11 ALI SABER SICHANI2 NEDA KAMAL2 3 HOSSEIN JAFARI KHAMIRANI2 3 SINA ZOGHI3 ELHAM EHSANI4 SANAZ MOHAMMADI4 SEYED SAJJAD TABEI3 SEYED ALIREZA DASTGHEIB2 SEYED MOHAMMAD BAGHER TABEI2 4 5 MEHDI DIANATPOUR2 6
Volume 102, 2023
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