Is autosomal recessive deafness associated with oculocutaneous albinism a "coincidence syndrome"?

被引:13
作者
Lezirovitz, Karina
Nicastro, Fernanda Stavale
Pardono, Eliete
Abreu-Silva, Ronaldo Serafim
Batissoco, Ana Carla
Neustein, Isaac
Spinelli, Mauro
Mingroni-Netto, Regina Celia
机构
[1] Univ Sao Paulo, Inst Biociencias, Dept Genet & Biol Evolut, Ctr Estudos Genoma Humano, BR-05422970 Sao Paulo, Brazil
[2] Pontificia Univ Catolica Sao Paulo, DERDIC, Sao Paulo, Brazil
[3] Hosp Serivdor Publ, Dept Oftalmol, Sao Paulo, Brazil
关键词
deafness; pigmentary disorders; oculocutaneous albinism; GJB2; MATP;
D O I
10.1007/s10038-006-0003-7
中图分类号
Q3 [遗传学];
学科分类号
071007 ; 090102 ;
摘要
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.
引用
收藏
页码:716 / 720
页数:5
相关论文
共 50 条
  • [31] Inheritance of skewed X chromosome inactivation in a large family with an X-linked recessive deafness syndrome
    Orstavik, KH
    Orstavik, RE
    Eiklid, K
    Tranebjaerg, L
    AMERICAN JOURNAL OF MEDICAL GENETICS, 1996, 64 (01): : 31 - 34
  • [32] Molecular basis of the long-QT syndrome associated with deafness
    Splawski, I
    Timothy, KW
    Vincent, GM
    Atkinson, DL
    Keating, MT
    PROCEEDINGS OF THE ASSOCIATION OF AMERICAN PHYSICIANS, 1997, 109 (05) : 504 - 511
  • [33] Unique autosomal recessive variant of palmoplantar keratoderma associated with hearing loss not caused by known mutations
    Hegazi, Moustafa Abdelaal
    Manou, Sommen
    Sakr, Hazem
    Van Camp, Guy
    ANAIS BRASILEIROS DE DERMATOLOGIA, 2017, 92 (05) : 154 - 158
  • [34] Prevalence and clinical features of autosomal dominant and recessive TMC1-associated hearing loss
    Nishio, Shin-ya
    Usami, Shin-ichi
    HUMAN GENETICS, 2022, 141 (3-4) : 929 - 937
  • [35] KCNQ1 Mutations Associated with Jervell and Lange-Nielsen Syndrome and Autosomal Recessive Romano-Ward Syndrome in India-Expanding the Spectrum of Long QT Syndrome Type 1
    Vyas, Bijal
    Puri, Ratna D.
    Namboodiri, Narayanan
    Nair, Mohan
    Sharma, Deepak
    Movva, Sireesha
    Saxena, Renu
    Bohora, Shomu
    Aggarwal, Neeraj
    Vora, Amit
    Kumar, Jatinder
    Singh, Tarandeep
    Verma, Ishwar C.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2016, 170 (06) : 1510 - 1519
  • [36] Novel compound heterozygous mutations in OCA2 gene associated with non-syndromic oculocutaneous albinism in a Chinese Han patient: a case report
    Wang, Hairong
    Wan, Yang
    Yang, Yun
    Li, Hao
    Mao, Liangwei
    Gao, Shuyang
    Xu, Jingjing
    Wang, Jing
    BMC MEDICAL GENETICS, 2019, 20
  • [37] New role of LRP5, associated with nonsyndromic autosomal-recessive hereditary hearing loss
    Xia, Wenjun
    Hu, Jiongjiong
    Liu, Fei
    Ma, Jing
    Sun, Shaoyang
    Zhang, Jin
    Jin, Kaiyue
    Huang, Jianbo
    Jiang, Nan
    Wang, Xu
    Li, Wen
    Ma, Zhaoxin
    Ma, Duan
    HUMAN MUTATION, 2017, 38 (10) : 1421 - 1431
  • [38] A Truncating Mutation in SERPINB6 Is Associated with Autosomal-Recessive Nonsyndromic Sensorineural Hearing Loss
    Sirmaci, Asli
    Erbek, Seyra
    Price, Justin
    Huang, Mingqian
    Duman, Duygu
    Cengiz, F. Basak
    Bademci, Gueney
    Tokgoz-Yilmaz, Suna
    Hismi, Burcu
    Ozdag, Hilal
    Ozturk, Banu
    Kulaksizoglu, Sevsen
    Yildirim, Erkan
    Kokotas, Haris
    Grigoriadou, Maria
    Petersen, Michael B.
    Shahin, Hashem
    Kanaan, Moien
    King, Mary-Claire
    Chen, Zheng-Yi
    Blanton, Susan H.
    Liu, Xue Z.
    Zuchner, Stephan
    Akar, Nejat
    Tekin, Mustafa
    AMERICAN JOURNAL OF HUMAN GENETICS, 2010, 86 (05) : 797 - 804
  • [39] Congenital ichthyosis in Prader-Willi syndrome associated with maternal chromosome 15 uniparental disomy: Case report and review of autosomal recessive conditions unmasked byUPD
    Muthusamy, Karthik
    Macke, Erica L.
    Klee, Eric W.
    Tebben, Peter J.
    Hand, Jennifer L.
    Hasadsri, Linda
    Marcou, Cherisse A.
    Schimmenti, Lisa A.
    AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2020, 182 (10) : 2442 - 2449
  • [40] Brown-Vialetto-Van Laere syndrome in a large inbred Lebanese family:: Confirmation of autosomal recessive inheritance?
    Mégarbané, A
    Desguerres, I
    Rizkallah, E
    Delague, V
    Nabbout, R
    Barois, A
    Urtizberea, A
    AMERICAN JOURNAL OF MEDICAL GENETICS, 2000, 92 (02): : 117 - 121