Homozygous SALL1 mutation causes a novel multiple congenital anomaly-mental retardation syndrome.

Journal article

OBJECTIVE: To delineate a novel autosomal recessive multiple congenital anomaly-mental retardation (MCA-MR) syndrome in 2 female siblings of a consanguineous pedigree and to identify the disease-causing mutation. STUDY DESIGN: Both siblings were clinically characterized and homozygosity mapping and sequencing of candidate genes were applied. The contribution of nonsense-mediated messenger RNA (mRNA) decay to the expression of mutant mRNA in fibroblasts of a healthy carrier and a control was ...

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Authors: Vodopiutz, J; Zoller, H; Fenwick, A; Arnhold, R; Schmid, M

• Publication status: Published
• Journal: Journal of pediatrics
• Volume: 162
• Issue: 3
• Pages: 612-617
• Publication date: 2013-03-01
• DOI: 10.1016/j.jpeds.2012.08.042
• EISSN: 1097-6833
• ISSN: 0022-3476
• Language: English
• Keywords: Female; Limb Deformities, Congenital; Transcription Factors; Humans; Syndrome; Intellectual Disability; Nonsense Mediated mRNA Decay; Abnormalities, Multiple; Homozygote; Mutation; Infant, Newborn; Pedigree