A biallelic loss‐of‐function <i>PDIA6</i> variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, and microcephaly
Elisa De Franco, Matthew N. Wakeling, Russel Donis Frew, James Russ‐Silsby, Catherine Peters, Stephen D. Marks, Andrew T. Hattersley, Sarah E. Flanagan
Abstract
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. Our study further defines the genetic and clinical features of this rare syndromic form of infancy-onset diabetes.
Topics & Concepts
MicrocephalyMedicineLoss functionPolycystic kidney diseaseDiabetes mellitusCystic fibrosisDiseasePolycystic diseasePediatricsPolycystic kidneyEndocrinologyInternal medicineGrowth retardationKidneyGeneticsBiologyPregnancyPhenotypeGenePancreatic function and diabetesGenetic and Kidney Cyst DiseasesGenetics and Neurodevelopmental Disorders