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

• 影响指数: 2.578
• 发表时间: Feb 2014
• 来源期刊: Am J Med Genet A
• DOI: 10.1002/ajmg.a.36299
• PMID: 24311527
• 文章类型: Journal Article
• 中科院分区: Q3
• 方向: 生物
• 作者列表: Rojnueangnit K,Jones JR,Basehore MJ,Robin NH

关键词: Coffin-Lowry syndrome; RPS6KA3 mutation; X-linked syndrome; progressive skeletal changes; stimulus-induced drop episodes (SIDEs)

Mesh: 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

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.