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

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 fo...

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Veröffentlicht in:	Clinical genetics 2022-11, Vol.102 (5), p.457-458
Hauptverfasser:	De Franco, Elisa, Wakeling, Matthew N., Frew, Russel D., Russ‐Silsby, James, Peters, Catherine, Marks, Stephen D., Hattersley, Andrew T., Flanagan, Sarah E.
Format:	Artikel
Sprache:	eng
Schlagworte:	Diabetes mellitus Diabetes Mellitus - genetics Female Fetal Growth Retardation - genetics Fibrosis Growth rate Homozygote Humans infancy‐onset diabetes Kidney diseases Letter to the Editor Letters to the Editor microcephaly Microcephaly - genetics Microencephaly Patients PDIA6 Polycystic kidney polycystic kidney disease Polycystic Kidney Diseases - genetics Protein Disulfide-Isomerases - genetics whole genome sequencing
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Zusammenfassung:	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.
ISSN:	0009-9163 1399-0004
DOI:	10.1111/cge.14187