A founder mutation in ADAMTSL4 causes early-onset bilateral ectopia lentis among Jews of Bukharian origin
| Autor: | Shay Ben-Shachar, Lina Basel-Vanagaite, Eyal Reinstein, Bella Davidov, Doron Neumann, Avi Orr-Urtreger, Irina Lagovsky, Pola Smirin-Yosef, Gabriela Peretz Amit |
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| Rok vydání: | 2016 |
| Předmět: |
Male
0301 basic medicine Marfan syndrome Heterozygote Pediatrics medicine.medical_specialty Genotype Endocrinology Diabetes and Metabolism Mutation Missense Disease Biochemistry Ectopia Lentis Young Adult 03 medical and health sciences ADAMTS Proteins Endocrinology Gene Frequency Lens Crystalline Genetics medicine Humans Young adult Ectopia lentis Molecular Biology Allele frequency Subluxation business.industry Homozygote Infant medicine.disease Founder Effect Pedigree Surgery 030104 developmental biology Child Preschool Jews Female Thrombospondins business Founder effect |
| Zdroj: | Molecular Genetics and Metabolism. 117:38-41 |
| ISSN: | 1096-7192 |
| DOI: | 10.1016/j.ymgme.2015.11.011 |
| Popis: | 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. |
| Databáze: | OpenAIRE |
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