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Human Genetics

, Volume 120, Issue 1, pp 85–92 | Cite as

DFNB68, a novel autosomal recessive non-syndromic hearing impairment locus at chromosomal region 19p13.2

  • Regie Lyn P. Santos
  • Muhammad Jawad Hassan
  • Shaheen Sikandar
  • Kwanghyuk Lee
  • Ghazanfar Ali
  • Protacio E. MartinJr
  • Michael Angelo L. Wambangco
  • Wasim Ahmad
  • Suzanne M. LealEmail author
Original Investigation

Abstract

From a large collection of families with autosomal recessive non-syndromic hearing impairment (NSHI) from Pakistan, linkage has been established for two unrelated consanguineous families to 19p13.2. This new locus was assigned the name DFNB68. A 10 cM genome scan and additional fine mapping were carried out using microsatellite marker loci. Linkage was established for both families to DFNB68 with maximum multipoint LOD scores of 4.8 and 4.6. The overlap of the homozygous regions between the two families was bounded by D19S586 and D19S584, which limits the locus interval to 1.9 cM and contains 1.4 Mb. The genes CTL2, KEAP1 and CDKN2D were screened but were negative for functional sequence variants.

Keywords

Hair Cell Hearing Impairment Multipoint Linkage Analysis Autosomal Recessive Mode DFNB68 Locus 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

Notes

Acknowledgments

We thank the two families who participated in this research. We are also grateful to Xuan Zhang for assistance with the figures. This work was supported by the Higher Education Commission, Pakistan, and National Institutes of Health, National Institute of Deafness and other Communication Disorders grant R01-DC03594. Genotyping services were provided by the CIDR and the NHLBI Mammalian Genotyping Service (Marshfield, WI, USA). CIDR is fully funded through a federal contract from the National Institutes of Health to The Johns Hopkins University, Contract Number N01-HG-65403.

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Copyright information

© Springer-Verlag 2006

Authors and Affiliations

  • Regie Lyn P. Santos
    • 1
    • 3
  • Muhammad Jawad Hassan
    • 2
  • Shaheen Sikandar
    • 2
  • Kwanghyuk Lee
    • 1
  • Ghazanfar Ali
    • 2
  • Protacio E. MartinJr
    • 1
  • Michael Angelo L. Wambangco
    • 1
  • Wasim Ahmad
    • 2
  • Suzanne M. Leal
    • 1
    Email author
  1. 1.Department of Molecular and Human GeneticsBaylor College of MedicineHoustonUSA
  2. 2.Department of Biological SciencesQuaid-I-Azam UniversityIslamabadPakistan
  3. 3.Genetic Epidemiology Unit, Department of Epidemiology and BiostatisticsErasmus Medical CentreRotterdamThe Netherlands

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