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Under moderately stringent annealing conditions, a 77 bp PCR product was obtained only from DNA of individuals with unambiguous WS2 phenotypes (Fig. alleles, was considered to be ‘affected’ by Bard (7) on the basis of slight hypopigmentation of the periphery of the retina alone.
However, he would probably never have been ascertained if not for his severely affected sibs, and our subsequent re-evaluation showed no ophthalmological abnormalities at all.
None of the individuals in MSU11 had dystopia canthorum.
At least four types are recognized (WS1, WS2, WS3 and WS4) on the basis of clinical and genetic criteria.
In addition, evaluations were made of individuals II-3 and II-4, who had not been described fully (7), and individuals in generation IV, all of whom were born after 1978. Conventional audiological evaluations were conducted in sound-proof booths.
All of the deafness occurring in MSU11 is sensorineural and congenital, except for evidence of presbycusis in the left ear of II-3 and presbycusis overlying mild congenital deafness in the right ear of III-7.
The allele-specific product is 77 bp, and is generated only from DNA from individuals with features of WS2.
In the MSU11 family, generation III has been described previously (7) (Fig. All of these individuals were contacted again in 19, and new ophthalmalogical and audiological evaluations made of III-3, who had exhibited the mildest pigmentary defects and no visual acuity defects.
Lewis (9) reported a family with an apparent dominant form of OA associated with sensorineural deafness (MIM 103470), and suggested that Bard's family (7) had the same disorder.