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

Research output: Contribution to journalArticlepeer-review

15 Scopus citations


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
Issue number1
StatePublished - Nov 15 1999

Bibliographical note

Funding Information:
We are grateful to the families for their cooperation in the study. We thank Robin Hockey and Gretel Beck for technical assistance. This work was supported in part by NIH grant NEI R01-EY-11298.


  • Chromosome 11
  • Genomic structure
  • Mapping

ASJC Scopus subject areas

  • Genetics


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