Article
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
American journal of human genetics - 1 Oct 2015
Ratbi Ilham, Falkenberg Kim D, Sommen Manou, Al-Sheqaih Nada, Guaoua Soukaina, Vandeweyer Geert, Urquhart Jill E, Chandler Kate E, Williams Simon G, Roberts Neil A, El Alloussi Mustapha, Black Graeme C, Ferdinandusse Sacha, Ramdi Hind, Heimler Audrey, Fryer Alan, Lynch Sally-Ann, Cooper Nicola, Ong Kai Ren, Smith Claire E L, Inglehearn Christopher F, Mighell Alan J, Elcock Claire, Poulter James A, Tischkowitz Marc, Davies Sally J, Sefiani Abdelaziz, Mironov Aleksandr A, Newman William G, Waterham Hans R, Van Camp Guy
Abstract excerpt
Heimler syndrome (HS) is a rare recessive disorder characterized by sensorineural hearing loss (SNHL), amelogenesis imperfecta, nail abnormalities, and occasional or late-onset retinal pigmentation. We ascertained eight families affected by HS and, by using a whole-exome sequencing approach, identified biallelic mutations in PEX1 or PEX6 in six of them. Loss-of-function mutations in both genes are known causes of...
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