Classic phenotype of Coffin-Lowry syndrome in a female with stimulus-induced drop episodes and a genotype with preserved N-terminal kinase domain.

Abstract

An adolescent female presented with intellectual disability, stimulus-induced drop episodes (SIDEs), facial characteristics that include wide set eyes, short nose with wide columella, full and everted lips with wide mouth and progressive skeletal changes: scoliosis, spondylolisthesis and pectus excavatum. These findings were suggestive of Coffin-Lowry syndrome (CLS), and this was confirmed by the identification of a novel mutation in RPS6KA3, a heterozygous one basepair duplication at nucleotide 1570 (c.1570dupA). This mutation occurs within the C-terminal kinase domain of the protein, and, therefore contradicts the previous report that SIDEs is only associated with premature truncation of the protein in the N-terminal kinase domain or upstream of this domain. As CLS is X-linked, it is unusual for a female to have such a classic phenotype.

• Authors: Kitiwan Rojnueangnit, Julie R Jones, Monica J Basehore, Nathaniel H Robin
• Journal: American journal of medical genetics. Part A (Am J Med Genet A) Vol. 164A Issue 2 Pg. 516-21 (Feb 2014) ISSN: 1552-4833 [Electronic] United States
• PMID: 24311527 (Publication Type: Journal Article)
• Copyright: © 2013 Wiley Periodicals, Inc.

Chemical References

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

Topics

• Child
• Child, Preschool
• Coffin-Lowry Syndrome (diagnosis, genetics)
• DNA Mutational Analysis
• Facies
• Female
• Genotype
• Humans
• Infant
• Mutation
• Phenotype
• Protein Interaction Domains and Motifs
• Radiography
• Ribosomal Protein S6 Kinases, 90-kDa (chemistry, genetics)
• Scoliosis (diagnostic imaging, genetics)