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ey0016.6-2 | New Functions of (Old) Genes | ESPEYB16

6.2. Epigenetic repression of androgen receptor transcription in mutation-negative androgen insensitivity syndrome (AIS type II)

NC Hornig , P Rodens , H Dorr , NC Hubner , AE Kulle , HU Schweikert , M Welzel , S Bens , O Hiort , R Werner , S Gonzalves , AK Eckstein , M Cools , A Verrijn-Stuart , HG Stunnenberg , R Siebert , O Ammerpohl , PM Holterhus

J Clin Endocrinol Metab. 2018 Dec 1;103(12):46174627.doi: 10.1210/jc.2018-00052. PMID: 30124873This study shows for the first time that epigenetic changes in the androgen receptor gene (AR) proximal promoter region may underlie a clinical phenotype of Androgen Insensitivity Syndrome (AIS) in individuals in whom no DNA sequence mutation in AR or ...

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ey0017.3-10 | New genes | ESPEYB17

3.10. DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

B Rivera , J Nadaf , S Fahiminiya , M Apellaniz-Ruiz , A Saskin , AS Chong , S Sharma , R Wagener , T Revil , V Condello , Z Harra , N Hamel , N Sabbaghian , K Muchantef , C Thomas , L de Kock , MN Hebert-Blouin , AV Bassenden , H Rabenstein , O Mete , R Paschke , MP Pusztaszeri , W Paulus , A Berghuis , J Ragoussis , YE Nikiforov , R Siebert , S Albrecht , R Turcotte , M Hasselblatt , MR Fabian , WD Foulkes

To read the full abstract: J Clin Invest. 2020;130:14791490.This detailed genetic and molecular analysis of a three-generation family reveals a new form of autosomal dominant tumor susceptibility syndrome entitled familial multinodular goiter (MNG) with schwannomatosis. Biallelic alterations of the DGCR8 gene were found in all affected patients: First, all patients harbored the same heterozygous germline mutation p.E518K. Secondly...

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ey0016.2-7 | Neonatal Diabetes Mellitus | ESPEYB16

2.7. A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development

E De Franco , RA Watson , WJ Weninger , CC Wong , SE Flanagan , R Caswell , A Green , C Tudor , CJ Lelliott , SH Geyer , B Maurer-Gesek , LF Reissig , H Lango Allen , A Caliebe , R Siebert , PM Holterhus , A Deeb , F Prin , R Hilbrands , H Heimberg , S Ellard , AT Hattersley , I Barroso

To read the full abstract: Am J Hum Genet. 2019 May 2;104(5):985989.This study reports the identification of a novel gene that is involved in the regulation of the pancreatic development.Understanding the molecular mechanisms of pancreatic development is important, for example to guide the progress of beta-cell replacement therapy for patients with Type 1 dia...

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ESPE Yearbook of Paediatric Endocrinology

6.2. Epigenetic repression of androgen receptor transcription in mutation-negative androgen insensitivity syndrome (AIS type II)

3.10. DGCR8 microprocessor defect characterizes familial multinodular goiter with schwannomatosis

2.7. A specific CNOT1 mutation results in a novel syndrome of pancreatic agenesis and holoprosencephaly through impaired pancreatic and neurological development

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