Gene variant analysis of a child presented with neonatal diabetes and multiple organ malformations / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 1371-1375, 2020.
Article
in Chinese
| WPRIM
| ID: wpr-879502
ABSTRACT
OBJECTIVE@#To explore the genetic basis for an infant with neonatal diabetes (NDM) and multiple malformations.@*METHODS@#Genetic variants were detected by next generation sequencing (NGS). Suspected variant was verified by Sanger sequencing.@*RESULTS@#A de novo heterozygous variant, c.1454_1455del(p.K485Rfs), was detected in exon 5 of the GATA6 gene. The variant was undetected in his parents and unreported previously. Bioinformatic analysis predicted the variant to be pathogenic.@*CONCLUSION@#The heterozygous variant of c.1454_1455del(p.K485Rfs) of the GATA6 gene probably underlies the disease in this child. Genetic testing can facilitate diagnosis and genetic counseling for NDM.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Abnormalities, Multiple
/
Genetic Testing
/
Sequence Deletion
/
Diabetes Mellitus
/
High-Throughput Nucleotide Sequencing
/
Heterozygote
Limits:
Adult
/
Female
/
Humans
/
Male
/
Infant, Newborn
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Type:
Article
Similar
MEDLINE
...
LILACS
LIS