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 |
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| container_title | Clinical genetics |
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| creator | De Franco, Elisa Wakeling, Matthew N. Frew, Russel D. Russ‐Silsby, James Peters, Catherine Marks, Stephen D. Hattersley, Andrew T. Flanagan, Sarah E. |
| description | 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. |
| doi_str_mv | 10.1111/cge.14187 |
| format | Article |
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| ispartof | Clinical genetics, 2022-11, Vol.102 (5), p.457-458 |
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| source | MEDLINE; Wiley Online Library Journals Frontfile Complete |
| subjects | 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 |
| title | A biallelic loss‐of‐function PDIA6 variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, and microcephaly |
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