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Unexpected heterogeneity due to recessive and de novo dominant mutations of GJB2 in an Iranian family with nonsyndromic hearing loss: implication for genetic counseling |
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| Authors: | Mahdieh Nejat Shirkavand Atefeh Raeisi Marzieh Akbari Mohammad Taghi Tekin Mustafa Zeinali Sirous |
| Institution: | a Department of Medical Genetics, Faculty of Medical Sciences, Tarbiat Modares University, Tehran, Iran b Kawsar’s Human Genetic Research Center, Tehran, Iran c Biology Group, Faculty of Sciences, Razi University, Kermanshah, Iran d John P. Hussman Institute for Human Genomics, Miller School of Medicine, University of Miami, Miami, FL, USA e Biotechnology Research Center, Pasteur Institute of Iran, Tehran, Iran |
| Abstract: | Mutations in the GJB2 gene are the most common cause of nonsyndromic autosomal recessive sensorineural hearing loss (HL). A few mutations in GJB2 have also been reported to cause dominant nonsyndromic HL. Here we report a large inbred family including two individuals with nonsyndromic sensorineural hearing loss. A dominant GJB2 mutation, c.551G>A (p.R184Q), was detected in the proband, yet his parents were negative for the mutation. The second affected person had heterozygous c.35delG mutation, which was inherited from his father. Large deletions of the GJB6 gene were not detected in this family. This study highlights the importance of mutation analysis in all affected cases within a pedigree. |
| Keywords: | De novo mutations GJB2 gene Hearing loss Iranian population |
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