A FAMILIAL CASE OF COFFIN-LOWRY SYNDROME CAUSED BY RPS6KA3 C.898C > T MUTATION ASSOCIATED WITH MULTIPLE ABNORMAL BRAIN IMAGING FINDINGS


Tos T., Alp M. Y. , Aksoy A., Ceylaner S., Hanauer A.

GENETIC COUNSELING, vol.26, no.1, pp.47-52, 2015 (SCI-Expanded) identifier

  • Publication Type: Article / Article
  • Volume: 26 Issue: 1
  • Publication Date: 2015
  • Journal Name: GENETIC COUNSELING
  • Journal Indexes: Science Citation Index Expanded (SCI-EXPANDED)
  • Page Numbers: pp.47-52
  • Bursa Uludag University Affiliated: No

Abstract

A familial case of Coffin-Lowly syndrome caused by RPS6K43 c.898C>T mutation associated with multiple abnormal brain imaging findings: Coffin-Lowry syndrome (CLS) is a rare X linked mental retardation syndrome characterised by severe psychomotor and growth retardation, distinct facial phenotype, and progressive skeletal malformations. It is caused by mutations in the RPS6KA3 gene located at Xp22.2. In this report we describe a family with CLS consists of three affected males, and two affected females, arising from c.898C>T mutation in RPS6KA3 gene. A 6 year-old, and a 3 year-old boy both had distinct clinical features of Coffin-Lowry syndrome; severe mental and motor retardation, microcephaly, prominent forehead, hypertelorism, large mouth, large ears, large soft hands, puffy tapered fingers, and pectus carinatum. In addition, they had multiple abnormal brain MRI findings. Other siblings presented with a mild and variable phenotype.