The conserved p.Arg108 residue in S1PR2 (DFNB68) is fundamental for proper hearing: evidence from a consanguineous Iranian family

• Main Authors: Michaela A. H. Hofrichter (Author), Majid Mojarad (Author), Julia Doll (Author), Clemens Grimm (Author), Atiye Eslahi (Author), Neda Sadat Hosseini (Author), Mohsen Rajati (Author), Tobias Müller (Author), Marcus Dittrich (Author), Reza Maroofian (Author), Thomas Haaf (Author), Barbara Vona (Author)
• Format: Book
• Published: BMC, 2018-05-01T00:00:00Z.
• Subjects: article
• Online Access: Connect to this object online.

Abstract Background Genetic heterogeneity and consanguineous marriages make recessive inherited hearing loss in Iran the second most common genetic disorder. Only two reported pathogenic variants (c.323G>C, p.Arg108Pro and c.419A>G, p.Tyr140Cys) in the S1PR2 gene have previously been linked to...