title: A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin.
abstract: The term isolated ectopia lentis (EL; subluxation or dislocation of the human crystalline lens) is applied to patients with EL, without skeletal features and in the absence of aortic root dilatation. To date, the only gene shown to cause autosomal-recessive isolated EL is ADAMTSL4. Here we report a novel founder mutation in ADAMTSL4 gene in children of Bukharian Jewish origin presenting with early-onset bilateral EL. A carrier frequency of 1:48 was determined among unrelated healthy Bukharian Jews. Given the complications associated with disease and the allele frequency, a population screening for individuals of this ancestry is warranted in order to allow prenatal, pre-implantation or early postnatal diagnosis.
authors.affiliation: Medical Genetics Institute, Meir Medical Center, Kfar-Saba, Israel; Sackler School of Medicine, Tel Aviv University, Israel. Electronic address: Reinstein.eyal@gmail.com.
authors.forename: Eyal
authors.initials: E
authors.lastname: Reinstein
authors.affiliation: Genomic Bioinformatics Laboratory, Department of Molecular Biology, Ariel University, Ariel, Israel; Felsenstein Medical Research Center, Rabin Medical Center, Petach Tikva, Israel.
authors.forename: Pola
authors.initials: P
authors.lastname: Smirin-Yosef
authors.affiliation: Felsenstein Medical Research Center, Rabin Medical Center, Petach Tikva, Israel.
authors.forename: Irina
authors.initials: I
authors.lastname: Lagovsky
authors.affiliation: The Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel.
authors.forename: Bella
authors.initials: B
authors.lastname: Davidov
authors.affiliation: The Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel.
authors.forename: Gabriela
authors.initials: G
authors.lastname: Peretz Amit
authors.affiliation: Unit of Pediatric Ophthalmology, Wolfson Medical Center, Holon, Israel.
authors.forename: Doron
authors.initials: D
authors.lastname: Neumann
authors.affiliation: Sackler School of Medicine, Tel Aviv University, Israel; The Genetic Institute & Prenatal Diagnosis Unit, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors.forename: Avi
authors.initials: A
authors.lastname: Orr-Urtreger
authors.affiliation: Sackler School of Medicine, Tel Aviv University, Israel; The Genetic Institute & Prenatal Diagnosis Unit, Tel Aviv Sourasky Medical Center, Tel Aviv, Israel.
authors.forename: Shay
authors.initials: S
authors.lastname: Ben-Shachar
authors.affiliation: Sackler School of Medicine, Tel Aviv University, Israel; Felsenstein Medical Research Center, Rabin Medical Center, Petach Tikva, Israel; The Raphael Recanati Genetic Institute, Rabin Medical Center, Petach Tikva, Israel; Pediatric Genetics Unit, Schneider Children's Medical Center of Israel, Petach Tikva, Israel.
authors.forename: Lina
authors.initials: L
authors.lastname: Basel-Vanagaite
mesh_terms: D000071096:ADAMTS Proteins; D002675:Child, Preschool; D004479:Ectopia Lentis / Q000208:ethnology* / Q000235:genetics* / Q000473:pathology; D005260:Female; D018703:Founder Effect; D005787:Gene Frequency; D005838:Genotype; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D007223:Infant; D007585:Jews; D007908:Lens, Crystalline / Q000473:pathology*; D008297:Male; D020125:Mutation, Missense; D010375:Pedigree; D019699:Thrombospondins / Q000235:genetics*; D055815:Young Adult
chemical_list: C486779:ADAMTSL4 protein, human; D019699:Thrombospondins; D000071096:ADAMTS Proteins
keywords: ADAMTSL4; Bukharian Jews; Ectopia lentis; Founder mutation; Marfan syndrome