Nonsyndromic deafness locus (DFNB48) segregating as an autosomal recessive trait has been mapped to the long arm of chromosome 15 in bands q23-q25.1 in five large Pakistani families. The deafness phenotype in one of these five families (PKDF245) is linked to D15S1005 with a lod score of 8.6 at θ=0, and there is a critical linkage interval of approximately 7 cM on the Marshfield human genetic map, bounded by microsatellite markers D15S216 (70.73 cM) and D15S1041 (77.69 cM). MYO9A, NR2E3, BBS4, and TMC3 are among the candidate genes in the DFNB48 region. The identification of another novel nonsyndromic recessive deafness locus demonstrates the high degree of locus heterogeneity for hearing impairment, particularly in the Pakistani population.
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We are grateful to the families for their participation in this study. We thank Dennis Drayna, Robert Morell, Julie Schultz, and Rehan S. Shaikh for their comments on this manuscript. We also thank Sabiha Nazli and Farooq Sabar for their technical assistance. This study was supported by the Higher Education Commission, Islamabad, Pakistan, and by the International Centre for Genetic Engineering and Biotechnology, Trieste, Italy, under project CRP/PAK02-01 (contract no. 02/013). The part of this study conducted in the USA was supported by intramural funds from the National Institute on Deafness and Other Communication Disorders (ZO1 DC000035-07 and Z01 DC000039-07).
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Ahmad, J., Khan, S.N., Khan, S.Y. et al. DFNB48, a new nonsyndromic recessive deafness locus, maps to chromosome 15q23-q25.1. Hum Genet 116, 407–412 (2005). https://doi.org/10.1007/s00439-004-1247-y
- Hearing Loss
- Autosomal Recessive Trait
- Pakistani Family
- Nuclear Receptor Subfamily
- Nonsyndromic Deafness