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

Elisa De Franco; Matthew N Wakeling; Russel D Frew; James Russ-Silsby; Catherine Peters; Stephen D Marks; Andrew T Hattersley; Sarah E Flanagan

doi:10.1111/cge.14187

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

Clin Genet. 2022 Nov;102(5):457-458. doi: 10.1111/cge.14187. Epub 2022 Jul 18.

Authors

Elisa De Franco¹, Matthew N Wakeling¹, Russel D Frew¹, James Russ-Silsby¹, Catherine Peters², Stephen D Marks^{3

4}, Andrew T Hattersley¹, Sarah E Flanagan¹

Affiliations

¹ Institute of Biomedical and Clinical Science, University of Exeter College of Medicine and Health, Exeter, UK.
² Department of Pediatric Endocrinology, Great Ormond Street Hospital for Children, London, UK.
³ Department of Paediatric Nephrology, Great Ormond Street Hospital for Children NHS Foundation Trust, London, UK.
⁴ NIHR Great Ormond Street Hospital Biomedical Research Centre, University College London Great Ormond Street Institute of Child Health, London, UK.

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.

Keywords: PDIA6; infancy-onset diabetes; microcephaly; polycystic kidney disease; transcript; whole genome sequencing.

Publication types

Case Reports
Letter
Comment

MeSH terms

Diabetes Mellitus* / genetics
Female
Fetal Growth Retardation / genetics
Homozygote
Humans
Microcephaly* / genetics
Polycystic Kidney Diseases* / genetics
Protein Disulfide-Isomerases / genetics

Substances

PDIA6 protein, human
Protein Disulfide-Isomerases

Grants and funding

WT_/Wellcome Trust/United Kingdom