91066 Journal Article_Burdon.pdf (2.11 MB)
Investigation of eight candidate genes on chromosome 1p36 for autosomal dominant total congenital cataract
journal contributionposted on 2023-05-18, 00:17 authored by Kathryn BurdonKathryn Burdon, Hattersley, K, Lachke, SA, Laurie, KJ, Maas, RL, Mackey, DA, Craig, JE
Purpose: To identify the causative gene for autosomal dominant total congenital cataract in a six-generation Australian family displaying linkage to chromosome 1p36. Methods: Eight candidate genes (HSPB7, FBXO42, EFHD2, ZBTB17, CAPZB, FBLIM1, ALDH4A1, and MFAP2) from within the previously defined linkage interval were selected based on expression in lens and their known or putative function. The coding exons were sequenced in multiple affected family members and compared to the reference sequence. Results: No segregating mutations were identified in any of the eight genes. Thirty-one polymorphisms were detected, 20 of which were in the exons and 11 in the flanking introns. Conclusions: Coding mutations in HSPB7, FBXO42, EFHD2, ZBTB17, CAPZB, FBLIM1, ALDH4A1, and MFAP2 do not account for congenital cataract in this family.
Publication titleMolecular Vision
Department/SchoolMenzies Institute for Medical Research
Place of publicationC/O Jeff Boatright, Lab B, 5500 Emory Eye Center, 1327 Clifton Rd, N E, Atlanta, USA, Ga, 30322
Rights statementCopyright 2008 Molecular Vision