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. 2009 Aug 14;85(2):273–280. doi: 10.1016/j.ajhg.2009.07.003

Figure 1.

Figure 1

Mutations of BSND Result in Nonsyndromic and Syndromic Hearing Loss in Family PKDF815

(A) Affected individuals V:15-17, V:19, and VI:2-5 have distal and proximal breakpoints at D1S2661 and D1S475, respectively, defining the smallest linkage interval to ∼4 cM. Individuals VI:15-17 are segregating prelingual profound deafness along with elevated renin and nephrocalcinosis (Table 1).

(B) Electropherograms of amplimers from genomic DNA templates illustrate homozygosity for the c.35T>C mutant allele among affected family members segregating isolated hearing loss. Affected family members segregating deafness along with nephrocalcinosis and elevated renin are compound heterozygous for c.35T>C and c.10G>T.