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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.
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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

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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