Journal
AMERICAN JOURNAL OF MEDICAL GENETICS PART A
Volume 170, Issue 3, Pages 703-706Publisher
WILEY-BLACKWELL
DOI: 10.1002/ajmg.a.37479
Keywords
KIAA2022; X-linked; intellectual disability; X-inactivation; epilepsy; autism
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Mutations in the KIAA2022 gene have been implicated in non-syndromic X-linked intellectual disability. Thus far, all carrier females reported have been unaffected and genotype-phenotype correlations have not been described. Herein, we report a de novo KIAA2022 nonsense mutation in a 17-year-old female with short stature, microcephaly, severe intellectual disability, poor speech, epilepsy, and autistic behavior. X-inactivation pattern is normal suggesting that the mutation is causing the phenotype. This report contests the current view that KIAA2022 mutations only affect males, which has implications for testing and genetic counseling. (c) 2015 Wiley Periodicals, Inc.
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