Analysis of a case with gonadal mosaicism for COL1A2 variant / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 523-526, 2020.
Artículo
en Chino
| WPRIM
| ID: wpr-826542
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a couple with normal phenotype but repeated pregnancies with fetuses affected by osteogenesis imperfecta.@*METHODS@#Whole exome sequencing (WES) was carried out on fetal specimens and parental DNA to detect potential pathologic variants. Suspected variants were verified by Sanger sequencing. Semen sample of the husband was collected for the extraction of genome DNA, and whole genome amplification (WGA) was performed for single sperms isolated from the sample.@*RESULTS@#WES has identified a heterozygous c.1378G>A (p.G460S) variant of the COL1A2 gene in the fetus, which was predicted to be pathogenic but not detected in peripheral blood samples of both husband and wife. The heterozygotic variant was detected in semen DNA from the husband. Among 15 spermatozoa, 4 were found to harbor the variant.@*CONCLUSION@#The fetus was diagnosed with osteogenesis imperfecta, and the gonadal mosaicism probably accounted for the repeated abnormal pregnancies. Possibility of gonadal mosaicism should be considered when counseling couples with normal phenotype and genotype but recurrent abnormal pregnancies and/or births of children with similar phenotypes and genetic variants.
Texto completo:
Disponible
Índice:
WPRIM (Pacífico Occidental)
Asunto principal:
Osteogénesis Imperfecta
/
Diagnóstico Prenatal
/
Colágeno Tipo I
/
Diagnóstico
/
Feto
/
Secuenciación del Exoma
/
Genética
/
Trastornos Gonadales
/
Mosaicismo
/
Mutación
Tipo de estudio:
Estudio diagnóstico
/
Estudio pronóstico
Límite:
Adulto
/
Niño
/
Femenino
/
Humanos
/
Masculino
/
Embarazo
Idioma:
Chino
Revista:
Chinese Journal of Medical Genetics
Año:
2020
Tipo del documento:
Artículo
Similares
MEDLINE
...
LILACS
LIS