A novel mutation in the RPS6KA3 gene in a patient with Coffin-Lowry syndrome.

Senel, S; Ceylaner, S; Ceylaner, G; Sahin, A Hanli; Andrieux, J; Delaunoy, J P

Senel, S; Ceylaner, S; Ceylaner, G; Sahin, A Hanli; Andrieux, J; Delaunoy, J P.

Affiliation

Senel S; Department of Pediatrics, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey. drsaliha007@yahoo.com.tr

Genet Couns ; 22(1): 21-4, 2011.

Article in En | MEDLINE | ID: mdl-21614984

ABSTRACT

ABSTRACT

Coffin-Lowry syndrome is an X-linked disorder characterized by mental retardation, characteristic facial features, skeletal abnormalities, and tapering fingers. Herein we report a novel missense mutation in exon 7 at codon 180 in the RPS6KA3 gene in a boy with Coffin-Lowry syndrome.

Subject(s)

Coffin-Lowry Syndrome/genetics; Mutation, Missense/genetics; Ribosomal Protein S6 Kinases, 90-kDa/genetics; Child; Codon/genetics; Coffin-Lowry Syndrome/diagnostic imaging; Comparative Genomic Hybridization; Exons/genetics; Humans; Lumbar Vertebrae/abnormalities; Lumbar Vertebrae/diagnostic imaging; Male; Radiography; Sacrum/abnormalities; Sacrum/diagnostic imaging; Spinal Dysraphism/diagnostic imaging; Spinal Dysraphism/genetics

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Collection: 01-internacional Database: MEDLINE Main subject: Mutation, Missense / Coffin-Lowry Syndrome / Ribosomal Protein S6 Kinases, 90-kDa Type of study: Diagnostic_studies Limits: Child / Humans / Male Language: En Journal: Genet Couns Year: 2011 Document type: Article

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