caa a22 4500 445860669 CHVBK 20180317145441.0 cr unu---uuuuu 170323e20111201xx s 000 0 eng 10.1007/s00439-011-1018-5 doi (NATIONALLICENCE)springer-10.1007/s00439-011-1018-5 Mutations of GIPC3 cause nonsyndromic hearing loss DFNB72 but not DFNB81 that also maps to chromosome 19p [Elektronische Daten] [Atteeq Rehman, Khitab Gul, Robert Morell, Kwanghyuk Lee, Zubair Ahmed, Saima Riazuddin, Rana Ali, Mohsin Shahzad, Ateeq-ul Jaleel, Paula Andrade, Shaheen Khan, Saadullah Khan, Carmen Brewer, Wasim Ahmad, Suzanne Leal, Sheikh Riazuddin, Thomas Friedman] A missense mutation of Gipc3 was previously reported to cause age-related hearing loss in mice. Point mutations of human GIPC3 were found in two small families, but association with hearing loss was not statistically significant. Here, we describe one frameshift and six missense mutations in GIPC3 cosegregating with DFNB72 hearing loss in six large families that support statistically significant evidence for genetic linkage. However, GIPC3 is not the only nonsyndromic hearing impairment gene in this region; no GIPC3 mutations were found in a family cosegregating hearing loss with markers of chromosome 19p. Haplotype analysis excluded GIPC3 from the obligate linkage interval in this family and defined a novel locus spanning 4.08Mb and 104 genes. This closely linked but distinct nonsyndromic hearing loss locus was designated DFNB81. Springer-Verlag (outside the USA), 2011 Rehman Atteeq Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 20850, Rockville, MD, USA aut Gul Khitab National Centre of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan aut Morell Robert Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 20850, Rockville, MD, USA aut Lee Kwanghyuk Department of Molecular and Human Genetics, Baylor College of Medicine, 77030, Houston, TX, USA aut Ahmed Zubair Division of Pediatric Ophthalmology, Cincinnati Children's Hospital Research Foundation, 45229, Cincinnati, OH, USA aut Riazuddin Saima Division of Pediatric Ophthalmology, Cincinnati Children's Hospital Research Foundation, 45229, Cincinnati, OH, USA aut Ali Rana National Centre of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan aut Shahzad Mohsin National Centre of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan aut Jaleel Ateeq-ul National Centre of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan aut Andrade Paula Department of Molecular and Human Genetics, Baylor College of Medicine, 77030, Houston, TX, USA aut Khan Shaheen National Centre of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan aut Khan Saadullah Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, 45320, Islamabad, Pakistan aut Brewer Carmen Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 20850, Bethesda, MD, USA aut Ahmad Wasim Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, 45320, Islamabad, Pakistan aut Leal Suzanne Department of Molecular and Human Genetics, Baylor College of Medicine, 77030, Houston, TX, USA aut Riazuddin Sheikh Allama Iqbal Medical College/Jinnah Hospital Complex, University of Health Sciences, 54550, Lahore, Pakistan aut Friedman Thomas Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 20850, Rockville, MD, USA aut Human Genetics Springer-Verlag 130/6(2011-12-01), 759-765 0340-6717 130:6<759 2011 130 439 https://doi.org/10.1007/s00439-011-1018-5 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00439-011-1018-5 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Rehman Atteeq Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 20850, Rockville, MD, USA aut NATIONALLICENCE 700 1- Gul Khitab National Centre of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan aut NATIONALLICENCE 700 1- Morell Robert Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 20850, Rockville, MD, USA aut NATIONALLICENCE 700 1- Lee Kwanghyuk Department of Molecular and Human Genetics, Baylor College of Medicine, 77030, Houston, TX, USA aut NATIONALLICENCE 700 1- Ahmed Zubair Division of Pediatric Ophthalmology, Cincinnati Children's Hospital Research Foundation, 45229, Cincinnati, OH, USA aut NATIONALLICENCE 700 1- Riazuddin Saima Division of Pediatric Ophthalmology, Cincinnati Children's Hospital Research Foundation, 45229, Cincinnati, OH, USA aut NATIONALLICENCE 700 1- Ali Rana National Centre of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan aut NATIONALLICENCE 700 1- Shahzad Mohsin National Centre of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan aut NATIONALLICENCE 700 1- Jaleel Ateeq-ul National Centre of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan aut NATIONALLICENCE 700 1- Andrade Paula Department of Molecular and Human Genetics, Baylor College of Medicine, 77030, Houston, TX, USA aut NATIONALLICENCE 700 1- Khan Shaheen National Centre of Excellence in Molecular Biology, Punjab University, Lahore, Pakistan aut NATIONALLICENCE 700 1- Khan Saadullah Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, 45320, Islamabad, Pakistan aut NATIONALLICENCE 700 1- Brewer Carmen Otolaryngology Branch, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 20850, Bethesda, MD, USA aut NATIONALLICENCE 700 1- Ahmad Wasim Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, 45320, Islamabad, Pakistan aut NATIONALLICENCE 700 1- Leal Suzanne Department of Molecular and Human Genetics, Baylor College of Medicine, 77030, Houston, TX, USA aut NATIONALLICENCE 700 1- Riazuddin Sheikh Allama Iqbal Medical College/Jinnah Hospital Complex, University of Health Sciences, 54550, Lahore, Pakistan aut NATIONALLICENCE 700 1- Friedman Thomas Laboratory of Molecular Genetics, National Institute on Deafness and Other Communication Disorders, National Institutes of Health, 20850, Rockville, MD, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 130/6(2011-12-01), 759-765 0340-6717 130:6<759 2011 130 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer