Two novel mutations in ILDR1 gene cause autosomal recessive nonsyndromic hearing loss in consanguineous Iranian families

• Published in: Journal of genetics Vol. 94; no. 3; pp. 483 - 487
• Main Authors: MEHRJOO, ZOHREH, BABANEJAD, MOJGAN, KAHRIZI, KIMIA, NAJMABADI, HOSSEIN
• Format: Journal Article
• Language: English
• Published: New Delhi Springer India 01.09.2015; Springer; Springer Nature B.V
• Subjects: Animal Genetics and Genomics; Base Sequence; Biomedical and Life Sciences; Connexin 26; Connexins - genetics; Consanguinity; Deafness; Deafness - genetics; Evolutionary Biology; Family; Female; Gene loci; Genes; Genes, Recessive; Genetic aspects; Genetic Predisposition to Disease; Genetics; Hearing loss; Humans; Iran; Life Sciences; Male; Microbial Genetics and Genomics; Molecular Sequence Data; Mutation; Mutation - genetics; Pakistan; Pedigree; Plant Genetics and Genomics; Receptors, Cell Surface - genetics; Research Note; Saudi Arabia; DFN mutation; Iran; autosomal recessive hearing loss; gene
• ISSN: 0022-1333; 0973-7731
• DOI: 10.1007/s12041-015-0537-6

In a recent screening programme on hearing loss (HL), we examined 17 common autosomal recessive nonsyndromic hearing loss (ARNSHL) genes in every consanguineous Iranian family with ARNSHL that was referred to our centre. We first screened GJB2 mutations and then utilized a panel of three to four short tandem repeats to analyse rest of the loci. Once a homozygous by descent (HBD) pattern was observed for a given locus, direct sequencing was performed to identify the possible mutation. Families that did not show HBD pattern were screened through otologic sequence capture of pathogenic exons (OtoSCOPE) targeted sequencing panel. Using this strategy, we identied two novel mutations in the immunoglobuline-like domain-containing receptor 1 gene (ILDR1, MIM 609739): a 2-bp deletion, c.1217-18delTC and a substitution, c.305T>A, in consanguineous Iranian deaf families.