Genetic analysis and prenatal diagnosis for a Chinese pedigree affected with N-acetylglutamate synthase deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 1360-1363, 2020.
Article
Dans Zh
| WPRIM
| ID: wpr-879499
Responsable en Bibliothèque :
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a Chinese pedigree affected with N-acetylglutamate synthase deficiency.@*METHODS@#Trio whole exome sequencing (WES) was carried out for the pedigree. Pathogenicity of the identified variant was predicted based on the latest recommendation of the American College of Medical Genetics and Genomics (ACMG). Prenatal diagnosis was provided for subsequent pregnancy through Sanger sequencing.@*RESULTS@#Trio WES showed that the proband has carried compound heterozygous c.68delG and c.796G>C variants of NAGS gene, for which the mother and father were respectively heterozygous carriers. Neither variant was reported previously. Based on the ACMG guidelines, the c.68delG variant was classified as "likely pathogenic" (PVS1+PM2), while the c.796G>C variant was classified as with "uncertain significance" (PM2+BP4). Sanger sequencing validated the above findings, and only detected the heterozygous c.796G>C variant in the amniotic fluid sample. The fetus was followed up till 6 month after birth with no obvious abnormality.@*CONCLUSION@#The compound heterozygous c.68delG and c.796G>C variants of the NAGS gene probably underlay the disorder in this pedigree, and the resulth asenabled genetic counseling and prenatal diagnosis for this pedigree.
Texte intégral:
1
Indice:
WPRIM
Sujet Principal:
Pedigree
/
Diagnostic prénatal
/
Chine
/
Dépistage génétique
/
Amino-acid N-acetyltransferase
/
Anomalies congénitales du cycle de l'urée
/
/
Mutation
Type d'étude:
Diagnostic_studies
/
Guideline
/
Prognostic_studies
Limites du sujet:
Female
/
Humans
/
Male
/
Pregnancy
Pays comme sujet:
Asia
langue:
Zh
Texte intégral:
Chinese Journal of Medical Genetics
Année:
2020
Type:
Article