title: Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"?
abstract: 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.
authors.affiliation: Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, CP 11461, 05422-970, São Paulo, SP, Brazil.
authors.forename: Karina
authors.initials: K
authors.lastname: Lezirovitz
authors.affiliation: Divisão de Educação e Reabilitação de Distúrbios da Comunicação (DERDIC), Pontifícia Universidade Católica, São Paulo, Brazil.
authors.forename: Fernanda Stávale
authors.initials: FS
authors.lastname: Nicastro
authors.affiliation: Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, CP 11461, 05422-970, São Paulo, SP, Brazil.
authors.forename: Eliete
authors.initials: E
authors.lastname: Pardono
authors.affiliation: Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, CP 11461, 05422-970, São Paulo, SP, Brazil.
authors.forename: Ronaldo Serafim
authors.initials: RS
authors.lastname: Abreu-Silva
authors.affiliation: Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, CP 11461, 05422-970, São Paulo, SP, Brazil.
authors.forename: Ana Carla
authors.initials: AC
authors.lastname: Batissoco
authors.affiliation: Departamento de Oftalmologia, Hospital Servidor Público Estadual SP, São Paulo, Brazil.
authors.forename: Isaac
authors.initials: I
authors.lastname: Neustein
authors.affiliation: Divisão de Educação e Reabilitação de Distúrbios da Comunicação (DERDIC), Pontifícia Universidade Católica, São Paulo, Brazil.
authors.forename: Mauro
authors.initials: M
authors.lastname: Spinelli
authors.affiliation: Centro de Estudos do Genoma Humano, Departamento de Genética e Biologia Evolutiva, Instituto de Biociências, Universidade de São Paulo, CP 11461, 05422-970, São Paulo, SP, Brazil. renetto@ib.usp.br.
authors.forename: Regina Célia
authors.initials: RC
authors.lastname: Mingroni-Netto
mesh_terms: D000293:Adolescent; D016115:Albinism, Oculocutaneous / Q000150:complications* / Q000235:genetics; D000951:Antigens, Neoplasm; D001301:Audiometry, Pure-Tone; D002648:Child; D002675:Child, Preschool; D000072259:Connexin 26; D017630:Connexins; D004252:DNA Mutational Analysis; D003638:Deafness / Q000150:complications* / Q000235:genetics*; D005091:Exons / Q000235:genetics; D005260:Female; D005808:Genes, Recessive / Q000235:genetics*; D006239:Haplotypes; D006579:Heterozygote; D006801:Humans; D008297:Male; D008565:Membrane Proteins / Q000235:genetics; D026901:Membrane Transport Proteins; D008969:Molecular Sequence Data; D010375:Pedigree; D013577:Syndrome
chemical_list: D000951:Antigens, Neoplasm; D017630:Connexins; C000607042:GJB2 protein, human; D008565:Membrane Proteins; D026901:Membrane Transport Proteins; C510061:SLC45A2 protein, human; D000072259:Connexin 26