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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...
| Autores principales: | , , , , , , , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
| Publicado: |
Blackwell Publishing Ltd
2022
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| Materias: | |
| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9796798/ https://www.ncbi.nlm.nih.gov/pubmed/35856135 http://dx.doi.org/10.1111/cge.14187 |
| _version_ | 1784860569296175104 |
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| author | De Franco, Elisa Wakeling, Matthew N. Frew, Russel D. Russ‐Silsby, James Peters, Catherine Marks, Stephen D. Hattersley, Andrew T. Flanagan, Sarah E. |
| author_facet | De Franco, Elisa Wakeling, Matthew N. Frew, Russel D. Russ‐Silsby, James Peters, Catherine Marks, Stephen D. Hattersley, Andrew T. Flanagan, Sarah E. |
| author_sort | De Franco, Elisa |
| collection | PubMed |
| 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.[Image: see text] |
| format | Online Article Text |
| id | pubmed-9796798 |
| institution | National Center for Biotechnology Information |
| language | English |
| publishDate | 2022 |
| publisher | Blackwell Publishing Ltd |
| record_format | MEDLINE/PubMed |
| spelling | pubmed-97967982023-01-04 A biallelic loss‐of‐function PDIA6 variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, and microcephaly De Franco, Elisa Wakeling, Matthew N. Frew, Russel D. Russ‐Silsby, James Peters, Catherine Marks, Stephen D. Hattersley, Andrew T. Flanagan, Sarah E. Clin Genet Letters to the Editor 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.[Image: see text] Blackwell Publishing Ltd 2022-07-18 2022-11 /pmc/articles/PMC9796798/ /pubmed/35856135 http://dx.doi.org/10.1111/cge.14187 Text en © 2022 The Authors. Clinical Genetics published by John Wiley & Sons Ltd. https://creativecommons.org/licenses/by/4.0/This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ (https://creativecommons.org/licenses/by/4.0/) License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited. |
| spellingShingle | Letters to the Editor De Franco, Elisa Wakeling, Matthew N. Frew, Russel D. Russ‐Silsby, James Peters, Catherine Marks, Stephen D. Hattersley, Andrew T. Flanagan, Sarah E. A biallelic loss‐of‐function PDIA6 variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, and microcephaly |
| title | A biallelic loss‐of‐function PDIA6 variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, and microcephaly |
| title_full | A biallelic loss‐of‐function PDIA6 variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, and microcephaly |
| title_fullStr | A biallelic loss‐of‐function PDIA6 variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, and microcephaly |
| title_full_unstemmed | A biallelic loss‐of‐function PDIA6 variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, and microcephaly |
| title_short | A biallelic loss‐of‐function PDIA6 variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, and microcephaly |
| title_sort | biallelic loss‐of‐function pdia6 variant in a second patient with polycystic kidney disease, infancy‐onset diabetes, and microcephaly |
| topic | Letters to the Editor |
| url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9796798/ https://www.ncbi.nlm.nih.gov/pubmed/35856135 http://dx.doi.org/10.1111/cge.14187 |
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