Identification of a de novo MAP2K1 gene variant in an affected patient with Cardio-facio-cutaneous syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 567-569, 2020.
Artículo
en Chino
| WPRIM
| ID: wpr-826531
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:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Variación Genética
/
Displasia Ectodérmica
/
China
/
Facies
/
MAP Quinasa Quinasa 1
/
Insuficiencia de Crecimiento
/
Estudios de Asociación Genética
/
Secuenciación del Exoma
/
Genética
/
Cardiopatías Congénitas
Tipo de estudio:
Estudio pronóstico
Límite:
Humanos
/
Lactante
/
Masculino
País/Región como asunto:
Asia
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2020
Tipo del documento:
Artículo
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