Article
Mutations in RAB28, encoding a farnesylated small GTPase, are associated with autosomal-recessive cone-rod dystrophy.
American journal of human genetics - 11 Jul 2013
Roosing Susanne, Rohrschneider Klaus, Beryozkin Avigail, Sharon Dror, Weisschuh Nicole, Staller Jennifer, Kohl Susanne, Zelinger Lina, Peters Theo A, Neveling Kornelia, Strom Tim M, van den Born L Ingeborgh, Hoyng Carel B, Klaver Caroline C W, Roepman Ronald, Wissinger Bernd, Banin Eyal, Cremers Frans P M, den Hollander Anneke I
Abstract excerpt
The majority of the genetic causes of autosomal-recessive (ar) cone-rod dystrophy (CRD) are currently unknown. A combined approach of homozygosity mapping and exome sequencing revealed a homozygous nonsense mutation (c.565C>T [p.Glu189*]) in RAB28 in a German family with three siblings with arCRD. Another homozygous nonsense mutation (c.409C>T [p.Arg137*]) was identified in a family of Moroccan Jewish descent...
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