Pedigrees of WS4/Sox10 families. (Left) Pedigree of family 140. The Proband (arrow) was found to be heterozygous for theSOX10 mutation Y207X. (−) Mutant allele; (+) wild-type allele. This patient has short segment HSCR, profound deafness, and multiple areas of hypopigmentation on his neck and abdomen. DNA was not available from the proband’s phenotypically normal sister. (Right) Pedigree of family 192. The Proband and his sister were both found to be heterozygous for the SOX10 mutation Q377X. Both siblings have nystagmus and ataxic cerebral palsy and are profoundly deaf. Only the proband has an abnormal enteric neuronal phenotype. Sequence analysis revealed a faint mutant band in the father corresponding to the T nucleotide in the TAG stop codon in addition to the wild-type band of normal intensity, suggesting possible germ-line mosaicism for Q377X.
