Searching across hundreds of databases

Our searching services are busy right now. Your search will reload in five seconds.

Forgot Password

If you have forgotten your password you can enter your email here and get a temporary password sent to your email.

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

Nature genetics | Sep 2, 2000

Usher syndrome type 1 describes the association of profound, congenital sensorineural deafness, vestibular hypofunction and childhood onset retinitis pigmentosa. It is an autosomal recessive condition and is subdivided on the basis of linkage analysis into types 1A through 1E. 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 hyperinsulinism. 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. 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.

Pubmed ID: 10973248 RIS Download

Mesh terms: Adaptor Proteins, Signal Transducing | Adult | Base Sequence | Carrier Proteins | Cell Line | Child, Preschool | Chromosome Deletion | Chromosomes, Human, Pair 11 | Consanguinity | DNA Mutational Analysis | Duodenum | Exons | Eye | Family Health | Female | Gene Deletion | Genes, Recessive | Genetic Linkage | Hearing Loss, Sensorineural | Humans | Hyperinsulinism | Immunohistochemistry | Infant | Introns | Ion Channels | Kidney Tubules | Male | Molecular Sequence Data | Pancreas | Pedigree | RNA Splicing | Retina | Retinal Degeneration | Reverse Transcriptase Polymerase Chain Reaction | Sequence Tagged Sites

Research resources used in this publication

None found

Research tools detected in this publication

None found

Data used in this publication

None found

Associated grants

  • Agency: NIDCD NIH HHS, Id: DC04530

Publication data is provided by the National Library of Medicine ® and PubMed ®. Data is retrieved from PubMed ® on a weekly schedule. For terms and conditions see the National Library of Medicine Terms and Conditions.

We have not found any resources mentioned in this publication.