Nonsyndromic Deafness DFNA1 Associated with Mutation of a Human Homolog of the Drosophila Gene diaphanous-Reference-Cited by-同舟云学术

Nonsyndromic Deafness DFNA1 Associated with Mutation of a Human Homolog of the Drosophila Gene diaphanous

Published:1997-11-14 Issue:5341 Volume:278 Page:1315-1318
ISSN:0036-8075
Container-title:Science
language:en
Short-container-title:Science

Author:

Lynch Eric D.¹²,Lee Ming K.¹²,Morrow Jan E.¹²,Welcsh Piri L.¹²,León Pedro E.¹²,King Mary-Claire¹²

Affiliation:

1. E. D. Lynch, M. K. Lee, J. E. Morrow, P. L. Welcsh, M.-C. King, Departments of Medicine and Genetics, University of Washington, Seattle, WA 98195, USA.

2. P. E. León, Center for Research in Cellular and Molecular Biology and School of Medicine, University of Costa Rica, San Jose, Costa Rica.

Abstract

The gene responsible for autosomal dominant, fully penetrant, nonsyndromic sensorineural progressive hearing loss in a large Costa Rican kindred was previously localized to chromosome 5q31 and named DFNA1 . Deafness in the family is associated with a protein-truncating mutation in a human homolog of the Drosophila gene diaphanous . The truncation is caused by a single nucleotide substitution in a splice donor, leading to a four–base pair insertion in messenger RNA and a frameshift. The diaphanous protein is a profilin ligand and target of Rho that regulates polymerization of actin, the major component of the cytoskeleton of hair cells of the inner ear.

Publisher

American Association for the Advancement of Science (AAAS)

Subject

Multidisciplinary

Reference48 articles.

1. León P. E., et al., Am. J. Hum. Genet. 33, 209 (1981);

2. León P. E., Raventos H., Lynch E., Morrow J., King M.-C., Proc. Natl. Acad. Sci. U.S.A. 89, 5181 (1992).

3. This project has been approved by the Committee on Human Subjects in Research of the Ministry of Health of Costa Rica and by the Human Subjects Division of the Institutional Review Board of the University of Washington. The criterion for deafness in the family is a hearing threshold greater than 50 dB at 250 Hz and 500 Hz. Of the participants 78 are deaf and 69 are older than 30 years with normal hearing. All deaf relatives are included in the analysis as are all hearing relatives older than age 30 years and all persons marrying into the family. No relatives younger than age 30 with normal hearing are included in the analysis or on the pedigree of Fig. 1. Cell lines were established from lymphocytes of 147 informative relatives with techniques established in our laboratory (1).

4. E. D. Lynch et al. in preparation.

5. Kim U. J., et al., Genomics 34, 213 (1996).

Cited by 375 articles. 订阅此论文施引文献订阅此论文施引文献，注册后可以免费订阅5篇论文的施引文献，订阅后可以查看论文全部施引文献

1. Genetic analysis of TRIOBP and MYO15A variants in Iranian families with autosomal recessive non-syndromic hearing loss;Human Gene;2024-12

2. Immune dysregulation due to bi-allelic mutation of the actin remodeling protein DIAPH1;Frontiers in Immunology;2024-07-15

3. Diaph1 knockout inhibits mouse primordial germ cell proliferation and affects gonadal development;Reproductive Biology and Endocrinology;2024-07-15

4. A Novel Variant in the DIAPH1 Gene Causing Macrothrombocytopenia and Non-syndromic Hearing Loss in a Pediatric Saudi Girl;Cureus;2024-05-25

5. Altered Fhod3 expression involved in progressive high-frequency hearing loss via dysregulation of actin polymerization stoichiometry in the cuticular plate;PLOS Genetics;2024-03-18