A Japanese patient with RAD51-associated Fanconi anemia.
Am J Med Genet A
; 179(6): 900-902, 2019 06.
Article
em En
| MEDLINE
| ID: mdl-30907510
ABSTRACT
RAD51 is the only identified autosomal dominant gene to date causative of Fanconi anemia (FA) due to dominant negative effects. Only two patients with RAD51-associated FA have been reported with atypical FA phenotypes without bone marrow failure. We describe a new Asian patient with a novel RAD51 mutation, presenting with multiple congenital anomalies and atypical FA with chromosomal instability. The patient was a 9-year-old Japanese girl. She had strabismus, myopia, submucous cleft palate, bilateral hearing impairment, and scoliosis. She also had growth retardation, developmental delay, and severe intellectual disability. We performed trio whole exome sequencing and Sanger sequencing and identified a de novo RAD51 mutation (c.725A>G, p.Gln242Arg). Isolated lymphocytes from the patient were hypersensitive to chromosomal breakage induced by the DNA cross-linking agent, mitomycin C. Our detailed phenotypic analysis of the RAD51-associated atypical FA revealed clinical manifestations from the diverse population and a consistent FA phenotype characterized by chromosome instability, intellectual disability, radial ray abnormality, and microcephaly, but not bone marrow failure.
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Texto completo:
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Base de dados:
MEDLINE
Assunto principal:
Variação Genética
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Predisposição Genética para Doença
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Rad51 Recombinase
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Anemia de Fanconi
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Estudos de Associação Genética
Tipo de estudo:
Prognostic_studies
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Risk_factors_studies
Limite:
Child
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Female
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Humans
Idioma:
En
Ano de publicação:
2019
Tipo de documento:
Article