Heterozygous RFX6 protein truncating variants are associated with MODY with reduced penetrance

Autor: Patel KA, Kettunen J, Laakso M, Stancáková A, Laver TW, Colclough K, Johnson MB, Abramowicz M, Groop L, Miettinen PJ, Shepherd MH, Flanagan SE, Ellard S, Inagaki N1, Hattersley AT, Tuomi T, Cnop M, Weedon MN

Finding new causes of monogenic diabetes helps understand glycaemic regulation in humans. To find novel genetic causes of maturity-onset diabetes of the young (MODY), we sequenced MODY cases with unknown aetiology and compared variant frequencies to

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od______3891::e90e97be17e15e676828d54252323c2b
https://erepo.uef.fi/handle/123456789/5261

Chromosome 20p11.2 deletions cause congenital hyperinsulinism via the loss of FOXA2 or its regulatory elements.

Autor: Laver TW; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK., Wakeling MN; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK., Caswell RC; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK., Bunce B; The Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Yau D; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK.; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK., Männistö JME; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK.; Department of Health Sciences, School of Medicine, University of Eastern Finland, Kuopio, Finland., Houghton JAL; The Genomics Laboratory, Royal Devon University Healthcare NHS Foundation Trust, Exeter, UK., Hopkins JJ; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK., Weedon MN; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK., Saraff V; Department of Paediatric Endocrinology and Diabetes, Birmingham Women's and Children's Hospital, Birmingham, UK., Kershaw M; Department of Paediatric Endocrinology and Diabetes, Birmingham Women's and Children's Hospital, Birmingham, UK., Honey EM; Department of Biochemistry, Genetics and Microbiology, University of Pretoria, Pretoria, South Africa., Murphy N; Department of Paediatric Endocrinology, Children's University Hospital, Dublin, Ireland., Giri D; Department of Paediatric Endocrinology, Bristol Royal Hospital for Children, Bristol, UK., Nath S; Royal Cornwall Hospital, Truro, UK., Tangari Saredo A; Division of Endocrinology, Sanatorio Güemes, Buenos Aires, Argentina., Banerjee I; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK., Hussain K; Department of Paediatrics, Division of Endocrinology, Sidra Medicine, Doha, Qatar., Owens NDL; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK., Flanagan SE; Department of Clinical and Biomedical Science, University of Exeter Medical School, Exeter, UK. S.Flanagan@exeter.ac.uk.

Publikováno v: European journal of human genetics : EJHG [Eur J Hum Genet] 2024 Jul; Vol. 32 (7), pp. 813-818. Date of Electronic Publication: 2024 Apr 11.

Hyperinsulinemic Hypoglycemia Diagnosed in Childhood Can Be Monogenic.

Autor: Hopkins JJ; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK., Childs AJ; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK., Houghton JAL; The Genomics Laboratory, Royal Devon University Healthcare NHS foundation Trust, Exeter EX2 5DW, UK., Hewat TI; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK., Atapattu N; Paediatric Endocrinology, Lady Ridgeway Hospital, Colombo 00800, Sri Lanka., Johnson MB; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK., Patel KA; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.; The Genomics Laboratory, Royal Devon University Healthcare NHS foundation Trust, Exeter EX2 5DW, UK., Laver TW; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK., Flanagan SE; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter EX2 5DW, UK.

Publikováno v: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2023 Feb 15; Vol. 108 (3), pp. 680-687.

Non-coding variants disrupting a tissue-specific regulatory element in HK1 cause congenital hyperinsulinism.

Autor: Wakeling MN; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Owens NDL; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Hopkinson JR; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Johnson MB; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Houghton JAL; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Dastamani A; Endocrinology Department, Great Ormond Street Hospital for Children, London, UK., Flaxman CS; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Wyatt RC; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Hewat TI; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Hopkins JJ; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Laver TW; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., van Heugten R; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Weedon MN; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., De Franco E; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Patel KA; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Ellard S; Exeter Genomics Laboratory, Royal Devon and Exeter NHS Foundation Trust, Exeter, UK., Morgan NG; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Cheesman E; Department of Paediatric Pathology, Royal Manchester Children's Hospital, Manchester, UK., Banerjee I; Department of Paediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK.; Faculty of Biology, Medicine and Health, the University of Manchester, Manchester, UK., Hattersley AT; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Dunne MJ; Faculty of Biology, Medicine and Health, the University of Manchester, Manchester, UK., Richardson SJ; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK., Flanagan SE; Institute of Biomedical and Clinical Science, University of Exeter Medical School, Exeter, UK. s.flanagan@exeter.ac.uk.

Publikováno v: Nature genetics [Nat Genet] 2022 Nov; Vol. 54 (11), pp. 1615-1620. Date of Electronic Publication: 2022 Nov 04.

PLIN1 Haploinsufficiency Causes a Favorable Metabolic Profile.

Autor: Patel KA; University of Exeter Medical School, Exeter, EX2 5DW, UK., Burman S; University of Exeter Medical School, Exeter, EX2 5DW, UK., Laver TW; University of Exeter Medical School, Exeter, EX2 5DW, UK., Hattersley AT; University of Exeter Medical School, Exeter, EX2 5DW, UK., Frayling TM; University of Exeter Medical School, Exeter, EX2 5DW, UK., Weedon MN; University of Exeter Medical School, Exeter, EX2 5DW, UK.

Publikováno v: The Journal of clinical endocrinology and metabolism [J Clin Endocrinol Metab] 2022 May 17; Vol. 107 (6), pp. e2318-e2323.