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      https://www.ias.ac.in/article/fulltext/jgen/101/0024

    • Keywords

       

      nonsyndromic hearing loss; deafness; autosomal dominant 70; DFNA70; MCM2; whole-exome sequencing; hearing loss; genetic hearing loss.

    • Abstract

       

      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.

    • Author Affiliations

       

      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

      1. Epilepsy Research Center, Shiraz University of Medical Sciences, Shiraz 71348-14336, Iran
      2. Department of Medical Genetics, Shiraz University of Medical Sciences, Shiraz 71348-14336, Iran
      3. Student Research Committee, Shiraz University of Medical Sciences, Shiraz 71348-14336, Iran
      4. Comprehensive Medical Genetic Center, Shiraz University of Medical Sciences, Shiraz 71348-14336, Iran
      5. Maternal-fetal Medicine Research Center, Shiraz University of Medical Sciences, Shiraz 71348-14336, Iran
      6. Stem Cells Technology Research Center, Shiraz University of Medical Sciences, Shiraz 71348-14336, Iran

    • Dates

       
      Published
      7 April 2022
      Manuscript received
      25 December 2021
      Manuscript revised
      4 February 2022
      Accepted
      8 February 2022

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