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

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...

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Published inMolecular genetics and metabolism Vol. 117; no. 1; pp. 38 - 41
Main Authors Reinstein, Eyal, Smirin-Yosef, Pola, Lagovsky, Irina, Davidov, Bella, Peretz Amit, Gabriela, Neumann, Doron, Orr-Urtreger, Avi, Ben-Shachar, Shay, Basel-Vanagaite, Lina
Format Journal Article
LanguageEnglish
Published United States Elsevier Inc 01.01.2016
Subjects
ADAMTS Proteins
ADAMTSL4
Bukharian Jews
Child, Preschool
Ectopia lentis
Ectopia Lentis - ethnology
Ectopia Lentis - genetics
Ectopia Lentis - pathology
Female
Founder Effect
Founder mutation
Gene Frequency
Genotype
Heterozygote
Homozygote
Humans
Infant
Jews
Lens, Crystalline - pathology
Male
Marfan syndrome
Mutation, Missense
Pedigree
Thrombospondins - genetics
Young Adult
Founder mutation
Bukharian Jews
Ectopia lentis
ADAMTSL4
Marfan syndrome
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Summary: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. •A novel founder mutation in ADAMTSL4 is reported in children of Jewish Bukharian origin.•ADAMTSL4 founder mutation causes early-onset bilateral ectopia lentis.•A carrier frequency of 1:48 was determined among unrelated healthy Bukharian Jews.•Population screening for individuals of Bukharian Jewish ancestry is warranted.
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ISSN:1096-7192
1096-7206
DOI:10.1016/j.ymgme.2015.11.011