Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
Case Reports
. 2022 Nov;102(5):457-458.
doi: 10.1111/cge.14187. Epub 2022 Jul 18.

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

Elisa De Franco  1 , Matthew N Wakeling  1 , Russel D Frew  1 , James Russ-Silsby  1 , Catherine Peters  2 , Stephen D Marks  3   4 , Andrew T Hattersley  1 , Sarah E Flanagan  1
Affiliations
Case Reports

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

Elisa De Franco et al. Clin Genet. 2022 Nov.

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.

PubMed Disclaimer

Conflict of interest statement

The authors declare no conflict of interest.

Figures

FIGURE 1
FIGURE 1
Schematic representation of the PDIA6 transcripts NM_005742.4 and NM_001282704.2 and their expression across tissues. Mean transcript expression (min = 0, max = 1) of each exon shown in black (data from GnomAD). Variant annotation according to NM_005742.4 transcript shown at the top.
See this image and copyright information in PMC

Comment on

References

    1. Shrestha N, De Franco E, Arvan P, Cnop M. Pathological β‐cell endoplasmic reticulum stress in type 2 diabetes: current evidence. Front Endocrinol (Lausanne). 2021;12:650158. - PMC - PubMed
    1. Al‐Fadhli FM, Afqi M, Sairafi MH, et al. Biallelic loss of function variant in the unfolded protein response gene PDIA6 is associated with asphyxiating thoracic dystrophy and neonatal‐onset diabetes. Clin Genet. 2021;99(5):694‐703. - PubMed
    1. Eletto D, Boyle S, Argon Y. PDIA6 regulates insulin secretion by selectively inhibiting the RIDD activity of IRE1. FASEB J. 2016;30(2):653‐665. - PMC - PubMed
    1. Gorasia DG, Dudek NL, Safavi‐Hemami H, et al. A prominent role of PDIA6 in processing of misfolded proinsulin. Biochim Biophys Acta. 2016;1864(6):715‐723. - PubMed

Substances