[Identification of a de novo MAP2K1 gene variant in an affected patient with Cardio-facio-cutaneous syndrome].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 37(5): 567-569, 2020 May 10.
Article
em Zh
| MEDLINE
| ID: mdl-32335888
ABSTRACT
OBJECTIVE:
To explore the genotype-phenotype correlation of Cardio-facio-cutaneous syndrome (CFCS) caused by MAP2K1 gene variants.METHODS:
Genomic DNA was extracted from peripheral blood sample from a child patient and his parents. Whole exome sequencing (WES) was carried out for the patient. Suspected variant was verified by Sanger sequencing.RESULTS:
The patient was a 1-year-8-month old Chinese male who manifested short stature, psychomotor retardation, relative macrocephaly, distinctive facial features, and congenital heart disease. WES test revealed a heterozygous missense c.389A>G (p.Tyr130Cys) variant in the MAP2K1 gene. Sanger sequencing has confirmed the variant as de novo. According to ACMG/AMP guidelines, the variant was classified as pathogenic.CONCLUSION:
Compared with previously reported CFCS cases due to MAP2K1 variants. The patient showed obvious behavioral problems, good appetite and tricuspid regurgitation, which may to be novel features for CFCS.
Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Variação Genética
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Displasia Ectodérmica
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Fácies
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MAP Quinase Quinase 1
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Insuficiência de Crescimento
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Cardiopatias Congênitas
Tipo de estudo:
Diagnostic_studies
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Prognostic_studies
Limite:
Humans
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Infant
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Male
País como assunto:
Asia
Idioma:
Zh
Ano de publicação:
2020
Tipo de documento:
Article