Journal article

Arts syndrome is caused by loss-of-function mutations in PRPS1

Arjan PM de Brouwer, Kelly L Williams, John A Duley, Andre BP van Kuilenburg, Sander B Nabuurs, Michael Egmont-Petersen, Dorien Lugtenberg, Lida Zoetekouw, Martijn JG Banning, Melissa Roeffen, Ben CJ Hamel, Linda Weaving, Robert A Ouvrier, Jennifer A Donald, Ron A Wevers, John Christodoulou, Hans van Bokhoven

AMERICAN JOURNAL OF HUMAN GENETICS | CELL PRESS | Published : 2007

Abstract

Arts syndrome is an X-linked disorder characterized by mental retardation, early-onset hypotonia, ataxia, delayed motor development, hearing impairment, and optic atrophy. Linkage analysis in a Dutch family and an Australian family suggested that the candidate gene maps to Xq22.1-q24. Oligonucleotide microarray expression profiling of fibroblasts from two probands of the Dutch family revealed reduced expression levels of the phosphoribosyl pyrophosphate synthetase 1 gene (PRPS1). Subsequent sequencing of PRPS1 led to the identification of two different missense mutations, c.455T-->C (p.L152P) in the Dutch family and c.398A-->C (p.Q133P) in the Australian family. Both mutations result in a lo..

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