title: Identification of BPESC1, a novel gene disrupted by a balanced chromosomal translocation, t(3;4)(q23;p15.2), in a patient with BPES.
abstract: The blepharophimosis syndrome (BPES) is a rare genetic disorder characterized by blepharophimosis, ptosis, epicanthus inversus, and telecanthus. In type I, BPES is associated with female infertility, while in type II, the eyelid defect occurs by itself. The BPES syndrome has been mapped to 3q23. Previously, we constructed a YAC-, PAC-, and cosmid-based physical map surrounding the 3q23 translocation breakpoint of a t(3;4)(q23;p15.2) BPES patient, containing a 110-kb PAC (169-C 10) and a 43-kb cosmid (11-L 10) spanning the breakpoint. In this report, we present the identification of BPESC1 (BPES candidate 1), a novel candidate gene that is disrupted by the translocation on chromosome 3. Cloning of the cDNA has been performed starting from a testis-specific EST, AI032396, found in cosmid 11-L 10. The cDNA sequence of BPESC1 is 3518 bp in size and contains an open reading frame of 351 bp. No significant similarities with known proteins have been found in the sequence databases. BPESC1 contains three exons and spans a genomic fragment of 17.5 kb. Expression of BPESC1 was observed in adult testis tissue. We performed mutation analysis in 28 unrelated familial and sporadic BPES patients, but, apart from the disruption by the translocation, found no other disease-causing mutations. These data make it unlikely that BPESC1 plays a major role in the pathogenesis of BPES.
authors.affiliation: Department of Medical Genetics, Ghent University Hospital, Ghent, B-9000, Belgium.
authors.forename: E
authors.initials: E
authors.lastname: De Baere
authors.forename: Y
authors.initials: Y
authors.lastname: Fukushima
authors.forename: K
authors.initials: K
authors.lastname: Small
authors.forename: N
authors.initials: N
authors.lastname: Udar
authors.forename: G
authors.initials: G
authors.lastname: Van Camp
authors.forename: K
authors.initials: K
authors.lastname: Verhoeven
authors.forename: A
authors.initials: A
authors.lastname: Palotie
authors.forename: A
authors.initials: A
authors.lastname: De Paepe
authors.forename: L
authors.initials: L
authors.lastname: Messiaen
mesh_terms: D000328:Adult; D000595:Amino Acid Sequence; D001483:Base Sequence; D016569:Blepharophimosis / Q000235:genetics*; D002874:Chromosome Mapping; D002893:Chromosomes, Human, Pair 3; D002894:Chromosomes, Human, Pair 4; D017931:DNA Primers; D005091:Exons; D020224:Expressed Sequence Tags; D005124:Eye Abnormalities / Q000235:genetics*; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D016366:Open Reading Frames; D011506:Proteins / Q000737:chemistry / Q000235:genetics*; D062085:RNA, Long Noncoding; D020133:Reverse Transcriptase Polymerase Chain Reaction; D013577:Syndrome; D013737:Testis / Q000378:metabolism; D014178:Translocation, Genetic
chemical_list: C415582:BPESC1 lncRNA, human; D017931:DNA Primers; D011506:Proteins; D062085:RNA, Long Noncoding