Article
A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin.
Molecular genetics and metabolism - 1 Jan 2016
Reinstein Eyal, Smirin-Yosef Pola, Lagovsky Irina, Davidov Bella, Peretz Amit Gabriela, Neumann Doron, Orr-Urtreger Avi, Ben-Shachar Shay, Basel-Vanagaite Lina
Abstract excerpt
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...
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