Article
Nonsyndromic Early-Onset Cone-Rod Dystrophy and Limb-Girdle Muscular Dystrophy in a Consanguineous Israeli Family are Caused by Two Independent yet Linked Mutations in ALMS1 and DYSF.
Human mutation - 1 Sept 2015
Lazar Csilla H, Kimchi Adva, Namburi Prasanthi, Mutsuddi Mousumi, Zelinger Lina, Beryozkin Avigail, Ben-Simhon Shiran, Obolensky Alexey, Ben-Neriah Ziva, Argov Zohar, Pikarsky Eli, Fellig Yakov, Marks-Ohana Devorah, Ratnapriya Rinki, Banin Eyal, Sharon Dror, Swaroop Anand
Abstract excerpt
Genetic analysis of clinical phenotypes in consanguineous families is complicated by coinheritance of large DNA regions carrying independent variants. Here, we characterized a family with early onset cone-rod dystrophy (CRD) and muscular dystrophy. Homozygosity mapping (HM) followed by whole exome sequencing revealed a nonsense mutation, p.R270*, in ALMS1 and two novel potentially disease-causing missense...
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