A recessive contiguous gene deletion causing infantile hyperinsulinism, enteropathy and deafness identifies the Usher type 1C gene

被引：0
作者：
Maria Bitner-Glindzicz
Keith J. Lindley
Paul Rutland
Diana Blaydon
Virpi V. Smith
Peter J. Milla
Khalid Hussain
Judith Furth-Lavi
Karen E. Cosgrove
Ruth M. Shepherd
Philippa D. Barnes
Rachel E. O'Brien
Peter A. Farndon
Jane Sowden
Xue-Zhong Liu
Matthew J. Scanlan
Sue Malcolm
Mark J. Dunne
Albert Aynsley-Green
Benjamin Glaser
机构：
[1] Institute of Child Health,Department of Clinical and Molecular Genetics
[2] and Great Ormond Street Hospital for Children NHS Trust,Department of Gastroenterology
[3] Great Ormond Street Hospital for Children NHS Trust,Department of Histopathology
[4] Great Ormond Street Hospital for Children NHS Trust,Department of Endocrinology and Metabolism
[5] London Centre for Paediatric Endocrinology and Metabolism,Institute of Molecular Physiology and Department of Biomedical Science
[6] Great Ormond Street Hospital for Children NHS Trust,Department of Human Genetics
[7] and the Institute of Child Health,undefined
[8] Hebrew University-Hadassah Medical School,undefined
[9] Sheffield University,undefined
[10] Western Bank,undefined
[11] Clinical Genetics Unit,undefined
[12] Birmingham Women's Hospital ,undefined
[13] Developmental Biology Unit,undefined
[14] Institute of Child Health ,undefined
[15] Medical College of Virginia,undefined
[16] Ludwig Institute for Cancer Research,undefined
[17] New York Branch at Memorial Sloan-Kettering Cancer Center,undefined
来源：
Nature Genetics | 2000年 / 26卷
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摘要：
Usher syndrome type 1 describes the association of profound, congenital sensorineural deafness, vestibular hypofunction and childhood onset retinitis pigmentosa1. It is an autosomal recessive condition and is subdivided on the basis of linkage analysis into types 1A through 1E (refs 2–6). Usher type 1C maps to the region containing the genes ABCC8 and KCNJ11 (encoding components of ATP-sensitive K+ (KATP) channels), which may be mutated in patients with hyperinsulinism7,8,9,10. We identified three individuals from two consanguineous families with severe hyperinsulinism, profound congenital sensorineural deafness, enteropathy and renal tubular dysfunction. The molecular basis of the disorder is a homozygous 122-kb deletion of 11p14–15, which includes part of ABCC8 and overlaps with the locus for Usher syndrome type 1C and DFNB18 (ref. 11). The centromeric boundary of this deletion includes part of a gene shown to be mutated in families with type 1C Usher syndrome, and is hence assigned the name USH1C. The pattern of expression of the USH1C protein is consistent with the clinical features exhibited by individuals with the contiguous gene deletion and with isolated Usher type 1C.
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页码：56 / 60
页数：4
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