Pendred syndrome maps to chromosome 7q21-34 and is caused by an intrinsic defect in thyroid iodine organification
- 1 April 1996
- journal article
- Published by Springer Nature in Nature Genetics
- Vol. 12 (4) , 424-426
- https://doi.org/10.1038/ng0496-424
Abstract
Exactly 100 years ago, in 1896, Pendred first described the association of congenital deafness with thyroid goitre (MM#274600). The incidence of Pendred syndrome is estimated at 7.5-10/100,000, and may be responsible for as much as 10% of hereditary deafness. The cause of the congenital deafness in Pendred syndrome is obscure, although a Mondini type malformation of the cochlea exists in some patients. The reason for the association between the thyroid and cochlear defects is similarly obscure, leading some investigators to suggest that the two recessive defects may be occurring together by chance in highly consanguineous families. An in vivo defect in thyroid iodine organification in Pendred syndrome patients has been reported. However, the molecular basis of this defect is unknown and the presence of an intrinsic thyroidal defect has not been conclusively demonstrated. We have adopted a genetic linkage study as a first step towards identifying the gene. The availability of an inbred Pendred syndrome kindred allowed us to utilize an efficient DNA pooling strategy to perform a genome-wide linkage search for the disease locus. In this way, we have mapped the disease locus to an approximately 9-cM interval between GATA23F5 and D7S687 on chromosome 7. In addition, we demonstrate an intrinsic thyroid iodine organification defect in a patient's thyroid cells as the cause of the thyroid dysfunction.Keywords
This publication has 25 references indexed in Scilit:
- Linkage of congenital, recessive deafness (DFNB4) to chromosome 7q31 and evidence for genetic heterogeneity in the Middle Eastern Druze populationHuman Molecular Genetics, 1995
- Novel approaches to linkage mappingCurrent Opinion in Genetics & Development, 1995
- Mutual antagonistic interactions between the thyrotropin (adenosine 3',5'-monophosphate) and protein kinase C/epidermal growth factor (tyrosine kinase) pathways in cell proliferation and differentiation of cultured human thyroid folliclesEndocrinology, 1995
- Thyroids from siblings with Pendred's syndrome contain thyroglobulin messenger ribonucleic acid variantsJournal of Clinical Endocrinology & Metabolism, 1995
- Use of a DNA pooling strategy to identify a human obesity syndrome locus on chromosome 15Human Molecular Genetics, 1995
- Clinical and Molecular Genetics Studies in Pendred's SyndromeThyroid®, 1994
- Monoamine oxidase activity and triiodothyronine biosynthesis in human cultured thyroid cellsBritish Journal of Pharmacology, 1989
- Fifteen Cases of Pendred's Syndrome: Congenital Deafness and Sporadic GoiterJAMA Otolaryngology–Head & Neck Surgery, 1972
- Deafness with Sporadic Goiter: Pendred's SyndromeJAMA Otolaryngology–Head & Neck Surgery, 1962
- ASSOCIATION OF CONGENITAL DEAFNESS WITH GOITRE THE NATURE OF THE THYROID DEFECTThe Lancet, 1958