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

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

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

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

Authors

S Senel¹, S Ceylaner, G Ceylaner, A Hanli Sahin, J Andrieux, J P Delaunoy

Affiliation

¹ Department of Pediatrics, Dr. Sami Ulus Maternity and Children's Health and Diseases Training and Research Hospital, Ankara, Turkey. drsaliha007@yahoo.com.tr

PMID: 21614984

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.

Publication types

Case Reports

MeSH terms

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

Substances

Codon
Ribosomal Protein S6 Kinases, 90-kDa
ribosomal protein S6 kinase, 90kDa, polypeptide 3