caa a22 4500 44586172X CHVBK 20180317145445.0 cr unu---uuuuu 170323e20110401xx s 000 0 eng 10.1007/s00439-010-0934-0 doi (NATIONALLICENCE)springer-10.1007/s00439-010-0934-0 DFNB89 , a novel autosomal recessive nonsyndromic hearing impairment locus on chromosome 16q21-q23.2 [Elektronische Daten] [Sulman Basit, Kwanghyuk Lee, Rabia Habib, Leon Chen, Umm-e-Kalsoom,, Regie Santos-Cortez, Zahid Azeem, Paula Andrade, Muhammad Ansar, Wasim Ahmad, Suzanne Leal] DFNB89 is a novel autosomal recessive nonsyndromic hearing impairment (ARNSHI) locus that was mapped to 16q21-q23.2. Linkage to the region was established by carrying out genome-wide linkage scans in two unrelated, consanguineous Pakistani families segregating ARNSHI. The maximum multipoint LOD score is 9.7 for both families and for each family, a significant maximum LOD score of 6.0 and 3.7 were obtained. The 3-unit support interval and the region of homozygosity for the two families extend from rs717293 (chr16: 62.1Mb) to rs728929 (chr16: 78.2Mb) and contain 16.1Mb of sequence. A total of 146 genes are within the DFNB89 interval. Eight candidate genes, CALB2, CDH1, CDH3, CDH11, HAS3, NOB1, PLEKHG4 and SMPD3, were sequenced, but no potentially causal variants were discovered. DFNB89 is the second ARNSHI locus mapped to chromosome 16. Springer-Verlag, 2010 Basit Sulman Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, 45320, Islamabad, Pakistan aut Lee Kwanghyuk Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, 700D, 77030, Houston, TX, USA aut Habib Rabia Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, 45320, Islamabad, Pakistan aut Chen Leon Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, 700D, 77030, Houston, TX, USA aut Umm-e-Kalsoom, Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, 45320, Islamabad, Pakistan aut Santos-Cortez Regie Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, 700D, 77030, Houston, TX, USA aut Azeem Zahid Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, 45320, Islamabad, Pakistan aut Andrade Paula Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, 700D, 77030, Houston, TX, USA aut Ansar Muhammad Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, 45320, Islamabad, Pakistan 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, One Baylor Plaza, 700D, 77030, Houston, TX, USA aut Human Genetics Springer-Verlag 129/4(2011-04-01), 379-385 0340-6717 129:4<379 2011 129 439 https://doi.org/10.1007/s00439-010-0934-0 text/html Onlinezugriff via DOI 1 research-article jats NATIONALLICENCE 856 40 https://doi.org/10.1007/s00439-010-0934-0 text/html Onlinezugriff via DOI NATIONALLICENCE 700 1- Basit Sulman Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, 45320, Islamabad, Pakistan aut NATIONALLICENCE 700 1- Lee Kwanghyuk Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, 700D, 77030, Houston, TX, USA aut NATIONALLICENCE 700 1- Habib Rabia Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, 45320, Islamabad, Pakistan aut NATIONALLICENCE 700 1- Chen Leon Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, 700D, 77030, Houston, TX, USA aut NATIONALLICENCE 700 1- Umm-e-Kalsoom Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, 45320, Islamabad, Pakistan aut NATIONALLICENCE 700 1- Santos-Cortez Regie Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, 700D, 77030, Houston, TX, USA aut NATIONALLICENCE 700 1- Azeem Zahid Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, 45320, Islamabad, Pakistan aut NATIONALLICENCE 700 1- Andrade Paula Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, 700D, 77030, Houston, TX, USA aut NATIONALLICENCE 700 1- Ansar Muhammad Department of Biochemistry, Faculty of Biological Sciences, Quaid-I-Azam University, 45320, Islamabad, Pakistan 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, One Baylor Plaza, 700D, 77030, Houston, TX, USA aut NATIONALLICENCE 773 0- Human Genetics Springer-Verlag 129/4(2011-04-01), 379-385 0340-6717 129:4<379 2011 129 439 Metadata rights reserved Springer special CC-BY-NC licence nationallicence BK010053 XK010053 XK010000 NATIONALLICENCE NATIONALLICENCE NL-springer