[CITATION][C] A mutation in PDS causes non-syndromic recessive deafness

XC Li, LA Everett, AK Lalwani, D Desmukh… - Nature …, 1998 - nature.com
XC Li, LA Everett, AK Lalwani, D Desmukh, TB Friedman, ED Green, ER Wilcox
Nature genetics, 1998nature.com
Fig. 1 Pedigree and haplotype data for an lndian family lSL-1 segregating non-syndromic
deafness. Genotypes of markers D75501–1 cM-O752420-1cM-D755. 25–2cM-D75523-1cM–
D75486-9c M-D75530-5cM–D75640 are shown. The deafness gene maps to approximately
a 14-cM interval betweer marker5 D75501 and D75530, The disease chromosomes are
shaded. Deduced| haplotypes are shown within parentheses. the temporal bone was also
conducted on individuals II-5, II-12, II-14 and II-11, revealing no Mondini-type cochlear mal …
Fig. 1 Pedigree and haplotype data for an lndian family lSL-1 segregating non-syndromic deafness. Genotypes of markers D75501–1 cM-O752420-1cM-D755. 25–2cM-D75523-1cM–D75486-9c M-D75530-5cM–D75640 are shown. The deafness gene maps to approximately a 14-cM interval betweer marker5 D75501 and D75530, The disease chromosomes are shaded. Deduced| haplotypes are shown within parentheses. the temporal bone was also conducted on individuals II-5, II-12, II-14 and II-11, revealing no Mondini-type cochlear mal-formation, though all three affected have bilateral large vestibular aqueducts. The cochlea, internal auditory canal, vestibule, semicircular canals, middle ear, mastoid and ossicular chain were normal on radi-ographic examinations conducted in these same individuals.
Linkage analysis of this family locates the gene within a 14-cMinterval on chro-mosome 7q31 between markers D7S501 and D7S530. Using FASTLINK version 5.1, the maximum LOD score is 7.0 for the marker D7S525 at 8= 0, using the allele frequency calculated by typing 92 unre-
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