Diagnosis of a case of autosomal recessive polycystic kidney disease with combined prenatal imaging and genetic testing / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 585-588, 2021.
Artigo
em Chinês
| WPRIM
| ID: wpr-879632
ABSTRACT
OBJECTIVE@#To explore the genetic basis for a fetus with renal abnormalities through whole exome sequencing and imaging examination.@*METHODS@#Clinical data and result of medical imaging of the fetus was collected. Amniotic fluid sample was collected for the extraction of fetal DNA. Whole exome sequencing was carried out. Candidate variants were verified by Sanger sequencing.@*RESULTS@#Prenatal ultrasonography showed that the fetus had bilateral enlargement of the kidneys with hyperechogenicity and diffuse renal cysts. Whole exome sequencing revealed that the fetus carried compound heterozygous variants of the PKHD1 gene, namely c.5137G>T and c.2335_2336delCA, which were derived from its mother and father, respectively.@*CONCLUSION@#The fetus was diagnosed with autosomal recessive polycystic kidney disease through combined prenatal ultrasonography and whole exome sequencing. The compound heterozygous variants of the PKHD1 gene probably underlay the pathogenesis in the fetus. The results have enabled prenatal diagnosis and genetic counseling for its parents.
Texto completo:
DisponíveL
Índice:
WPRIM (Pacífico Ocidental)
Assunto principal:
Diagnóstico Pré-Natal
/
Testes Genéticos
/
Rim Policístico Autossômico Recessivo
/
Receptores de Superfície Celular
/
Sequenciamento do Exoma
Tipo de estudo:
Estudo diagnóstico
Limite:
Feminino
/
Humanos
/
Gravidez
Idioma:
Chinês
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2021
Tipo de documento:
Artigo
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