Ziprkowski and Adam (1964) described a Sephardic Jewish family from Morocco in which 2 children in each of 2 families with consanguineous parents had congenital deafness with total albinism. The 2 sibships were related to each other and ... Ziprkowski and Adam (1964) described a Sephardic Jewish family from Morocco in which 2 children in each of 2 families with consanguineous parents had congenital deafness with total albinism. The 2 sibships were related to each other and shared a pair of great-great-grandparents in common. In 1 sibship, 3 sibs of the 2 doubly affected sibs had only congenital deafness. Fraser (1982) suggested the existence of 2 separate recessive disorders segregating in this highly consanguineous group. Lezirovitz et al. (2006) reported a Brazilian family in which the 16-year-old male proband had complete oculocutaneous albinism (OCA4; 606574) and moderate to severe congenital sensorineural deafness (DFNB1; 220290). A younger sister had oculocutaneous albinism without deafness, and 2 additional sisters had profound and mild sensorineural hearing loss, respectively, without albinism.
Lezirovitz et al. (2006) identified a homozygous mutation in the GJB2 gene (121011.0005) in 3 members of a Brazilian family with sensorineural hearing loss consistent with DFNB1. Interestingly, 1 of the patients had only mild hearing loss that ... Lezirovitz et al. (2006) identified a homozygous mutation in the GJB2 gene (121011.0005) in 3 members of a Brazilian family with sensorineural hearing loss consistent with DFNB1. Interestingly, 1 of the patients had only mild hearing loss that developed later in childhood. Further molecular analysis of the same family identified a homozygous mutation in the MATP gene (606202.0009) in the 2 sibs with oculocutaneous albinism consistent with OCA4. The proband, who had both disorders, carried both homozygous mutations. Although the parents did not acknowledge consanguinity, haplotype analysis indicated that they shared a common ancestor. Lezirovitz et al. (2006) hypothesized that the patients reported by Ziprkowski and Adam (1964) likely also resulted from the coincident inheritance of 2 separate recessive disorders, as suggested by Fraser (1982).