Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl Syndrome 1 (BBS1)

N. B. Haider, C. Searby, E. Galperin, L. Mintz, M. Horowitz, E. M. Stone, V. C. Sheffield*

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

Abstract

Bardet-Biedl Syndrome (BBS) is an autosomal recessive disorder characterized by developmental abnormalities including mental retardation, obesity, retinitis pigmentosa, polydactyly, short stature, and hypogenitalism. To date, five BBS loci have been identified. BBS1, located on 11q13, is reported to be the most prevalent form of BBS in the Caucasian population. A positional cloning approach is being used to identify the gene responsible for BBS1. EHD1, a new member of the EH-domain containing proteins, was identified in this study as lying within the BBS1 disease interval. RNA analysis of many tissues revealed that expression of EHD1 is ubiquitous, with elevated levels in the testis. The genomic structure of EHD1 was elucidated by direct BAC sequencing. Following identification of the intron/exon boundaries, mutational analysis was performed by single strand conformation polymorphism and direct sequencing of affected individuals from several large kindreds linked to the BBS1 locus, as well as a cohort of unrelated probands. No disease-causing mutations were identified in this analysis, but several polymorphisms were found. (C) 1999 Elsevier Science B.V. All rights reserved.

Original languageEnglish
Pages (from-to)227-232
Number of pages6
JournalGene
Volume240
Issue number1
DOIs
StatePublished - 15 Nov 1999

Keywords

  • Chromosome 11
  • Genomic structure
  • Mapping

Fingerprint

Dive into the research topics of 'Evaluation and molecular characterization of EHD1, a candidate gene for Bardet-Biedl Syndrome 1 (BBS1)'. Together they form a unique fingerprint.

Cite this