A YAC contig spanning the blepharophimosis-ptosis-epicanthus inversus syndrome and propionic acidemia loci

Maria Rosaria Piemontese, Elena Memeo, Massimo Carella, Patrizia A. Mati, Jean Claude Chomel, Dominique Bonneau, Giuseppe Pilia, Antonio Cao, Harry Drabkin, Robert Gemmill, Johanna Rommens, Leopoldo Zelante, Paolo Gasparini, Luigi Bisceglia

Research output: Contribution to journalArticlepeer-review


Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is an autosomal dominant condition consisting of congenital dysplasia of the eyelids with a reduced horizontal diameter of the palpebral fissures, droopy eyelids and epicanthus inversus. Two clinical entities have been described: type I and type II. The former is distinguished by female infertility, whereas the latter presents without other symptoms. Both type I and type II were recently mapped on the long arm of chromosome 3 (3q22-q23), suggesting a common gene may be affected. The centromeric and the telomeric limits of this region are well defined between loci D3S1316 and D3S1615, which reside approximately 5 cM apart. Here, we present the construction of a YAC contig spanning the entire BPES locus using 17 polymorphic markers, 2 STS and 28 ESTs. This region of approximately 5 Mb was covered by 31 YACs, and was supported by detailed FISH analysis. In addition, we have precisely mapped the propionyl-CoA carboxylase beta polypeptide (PCCB), the gene mutated in propionic acidemia, within this contig. Apart from providing a framework for the identification of the BPES gene, this contig will also be useful for the future identification of defects and genes' mapped to this region, and for developing template resources for genomic sequencing.

Original languageEnglish
Pages (from-to)171-174
Number of pages4
JournalEuropean Journal of Human Genetics
Issue number3
Publication statusPublished - May 1997


  • Blepharophimosis-ptosis-epicanthus locus
  • Propionic acidemia locus
  • YAC contig

ASJC Scopus subject areas

  • Genetics(clinical)


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