KIAA2022 nonsense mutation in a symptomatic female.
Am J Med Genet A
; 170(3): 703-6, 2016 Mar.
Article
em En
| MEDLINE
| ID: mdl-26576034
ABSTRACT
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.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Códon sem Sentido
/
Estudos de Associação Genética
/
Proteínas do Tecido Nervoso
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Adolescent
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Female
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Humans
Idioma:
En
Revista:
Am J Med Genet A
Assunto da revista:
GENETICA MEDICA
Ano de publicação:
2016
Tipo de documento:
Article