@article{9330c440d338459b9974b2aecc85debd,
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.",
keywords = "ADAMTSL4, Bukharian Jews, Ectopia lentis, Founder mutation, Marfan syndrome",
author = "Eyal Reinstein and Pola Smirin-Yosef and Irina Lagovsky and Bella Davidov and {Peretz Amit}, Gabriela and Doron Neumann and Avi Orr-Urtreger and Shay Ben-Shachar and Lina Basel-Vanagaite",
note = "Publisher Copyright: {\textcopyright} 2015 Elsevier Inc.",
year = "2016",
month = jan,
day = "1",
doi = "10.1016/j.ymgme.2015.11.011",
language = "אנגלית",
volume = "117",
pages = "38--41",
journal = "Molecular Genetics and Metabolism",
issn = "1096-7192",
publisher = "Academic Press Inc.",
number = "1",
}