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Classic phenotype of Coffin–lowry syndrome in a female with stimulus‐induced drop episodes and a genotype with preserved N‐terminal kinase domain
Author(s) -
Rojnueangnit Kitiwan,
Jones Julie R.,
Basehore Monica J.,
Robin Nathaniel H.
Publication year - 2014
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.36299
Subject(s) - protein kinase domain , phenotype , scoliosis , biology , genetics , medicine , anatomy , mutant , gene
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. © 2013 Wiley Periodicals, Inc.