Hearing impairment is frequently found associated with pigmentary disorders in 
many syndromes. However, total oculocutaneous albinism (OCA) associated with 
deafness has been described only once, by Ziprkowski and Adam (Arch Dermatol 
89:151-155, 1964) in an inbred family. A syndrome associating deafness and OCA 
was suggested by the authors, but two separate recessive genes segregating in 
this inbred group were also proposed later by Fraser (OMIM # 220900). Combined 
deafness and total OCA were also observed by us in a family originally reported 
to be nonconsanguineous but in which haplotyping showed evidence of a common 
ancestry: the proband was affected by both diseases, one of his sisters had only 
OCA and another sister had only deafness. Both the proband and his deaf sister 
were found to be homozygotes for the 35delG mutation (GJB2 gene), the most 
frequent cause of hereditary deafness. Linkage analysis with markers close to 
the four known OCA loci excluded linkage to OCA1, OCA2, and OCA3, and 
homozygosity in markers near OCA4 locus was observed. Sequencing of the 
corresponding gene (MATP) revealed a c.1121delT mutation, which leads to a stop 
codon at position 397 (L374fsX397). Clearly, the combined occurrence of deafness 
and albinism in this pedigree was due to mutations in two different genes, 
showing autosomal recessive inheritance. We speculate that the putative syndrome 
reported by Ziprkowski and Adam might have resulted from the co-occurrence of 
autosomal recessive deafness and albinism in the same pedigree, as suggested by 
Fraser.