Genetic testing and prenatal diagnosis in seven pedigrees affected with ornithine transcarbamylase deficiency / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 106-109, 2020.
Artículo
en Chino
| WPRIM
| ID: wpr-781288
ABSTRACT
OBJECTIVE@#To detect genetic variants among 7 pedigrees affected with ornithine transcarbamylase deficiency (OTCD) and provide prenatal diagnosis for them.@*METHODS@#The pedigrees were subjected to targeted next-generation sequencing (NGS) with a gene panel for inherited metabolic diseases. Suspected pathological variants were confirmed by Sanger sequencing of the probands and their family members. Prenatal diagnosis was provided for 4 of the pedigrees.@*RESULTS@#Seven variants of the OTC gene, including c.583G>A (p.Gly195Arg), c.626C>T (p.Ala209Val), c.674C>T(p.Pro225Leu), c.482A>G (p.Asn161Ser), IVS1-2A>G, c.116G>T(p.Gly39Val), c.898delT(p.300Phefs*22), were detected, among which IVS1-2A>G, c.116G>A (p.Gly39Val) and c.898delT (p.300Phefs*22) were unreported previously. Three male fetuses were found to carry hemizygotic variants upon prenatal diagnosis. One female fetus were found to be heterozygous for a variant, and appeared to be normal at birth as well as by newborn screening.@*CONCLUSION@#OTC gene variant is the etiology of OTCD in the 7 pedigrees. Genetic testing of OTC could assist physicians in OTCD diagnosis and provide genetic counseling and prenatal diagnosis for the pedigrees.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Tipo de estudio:
Estudio diagnóstico
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2020
Tipo del documento:
Artículo
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