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

Eyal Reinstein*, Pola Smirin-Yosef, Irina Lagovsky, Bella Davidov, Gabriela Peretz Amit, Doron Neumann, Avi Orr-Urtreger, Shay Ben-Shachar, Lina Basel-Vanagaite

*Corresponding author for this work

Research output: Contribution to journalArticlepeer-review

15 Scopus citations

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.

Original languageEnglish
Pages (from-to)38-41
Number of pages4
JournalMolecular Genetics and Metabolism
Volume117
Issue number1
DOIs
StatePublished - 1 Jan 2016

Funding

FundersFunder number
Rabin Medical Center

    Keywords

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

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