Genetic analysis of a rare fetus with mandibulofacial dysostosis Guion-Almeida type / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 791-794, 2021.
Artigo
em Chinês
| WPRIM
| ID: wpr-888397
ABSTRACT
OBJECTIVE@#To delineate the clinical and genetic features of a fetus with micrognathia, low-set ears, microtia, polyhydramnios and anechoic stomach by ultrasonography.@*METHODS@#Whole exome sequencing (WES) was carried out to detect genetic variant in the fetus, for which routine chromosomal karyotyping and chromosomal microarray analysis (CMA) yielded no positive finding. Candidate variants were verified by Sanger sequencing and bioinformatic analysis.@*RESULTS@#WES revealed that the fetus has carried a de novo nonsense c.2302C>T (p.Q768X) variant in exon 23 of the EFTUD2 gene, which was detected in neither parent. The variant was unreported previously and may lead to premature termination of the translation of EFTUD2 protein at the 768th amino acid. Bioinformatic analysis predicted the amino acid to be highly conserved and may alter the structure and function of the EFTUD2 protein.@*CONCLUSION@#The c.2302C>T variant of the EFTUD2 gene probably underlay the mandibulofacial dysostosis Guion-Almeida type in the fetus. Discovery of the novel variant has enriched variant spectrum of the EFTUD2 gene and provided a basis for genetic counseling and prenatal diagnosis for the family.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Fenótipo
/
Fatores de Alongamento de Peptídeos
/
Ribonucleoproteína Nuclear Pequena U5
/
Feto
/
Disostose Mandibulofacial
/
Mutação
Tipo de estudo:
Estudo prognóstico
Limite:
Feminino
/
Humanos
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Artigo
Similares
MEDLINE
...
LILACS
LIS