A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin

作者：Reinstein Eyal; Smirin Yosef Pola; Lagovsky Irina; Davidov Bella; Amit Gabriela Peretz; Neumann Doron; Orr Urtreger Avi; Ben Shachar Shay; Basel Vanagaite Lina

来源：Molecular Genetics and Metabolism, 2016, 117(1): 38-41.

DOI：10.1016/j.ymgme.2015.11.011

• Ectopia lentis
• Founder mutation
• ADAMTSL4
• Marfan syndrome
• Bukharian Jews

The term isolated ectopia lends (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.

• 出版日期2016-1
• 单位河北医科大学