A biallelic loss‐of‐function PDIA6 variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, and microcephaly.

Autor:	De Franco, Elisa, Wakeling, Matthew N., Frew, Russel D., Russ‐Silsby, James, Peters, Catherine, Marks, Stephen D., Hattersley, Andrew T., Flanagan, Sarah E.
Předmět:	POLYCYSTIC kidney disease MICROCEPHALY PANCREATIC beta cells DIABETES TYPE 1 diabetes FETAL growth retardation
Zdroj:	Clinical Genetics; Nov2022, Vol. 102 Issue 5, p457-458, 2p
Abstrakt:	Infancy-onset diabetes, microcephaly, PDIA6, polycystic kidney disease, whole genome sequencing, transcript Keywords: infancy-onset diabetes; microcephaly; PDIA6; polycystic kidney disease; transcript; whole genome sequencing EN infancy-onset diabetes microcephaly PDIA6 polycystic kidney disease transcript whole genome sequencing 457 458 2 10/13/22 20221101 NES 221101 We report a second patient with intrauterine growth retardation, congenital polycystic kidney disease, infancy-onset diabetes, microcephaly, and liver fibrosis caused by a homozygous PDIA6 loss-of-function variant. A biallelic loss-of-function PDIA6 variant in a second patient with polycystic kidney disease, infancy-onset diabetes, and microcephaly. [Extracted from the article]
Databáze:	Complementary Index
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