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ey0017.6-9 | Differences/Disorders of Sex Development: Genetics | ESPEYB17

6.9. Loss-of-function variants in PPP1R12A: From isolated sex reversal to holoprosencephaly spectrum and urogenital malformations

JJ Hughes , E Alkhunaizi , P Kruszka , LC Pyle , DK Grange , SI Berger , KK Payne , D Masser-Frye , T Hu , MR Christie , NJ Clegg , JL Everson , AF Martinez , LE Walsh , E Bedoukian , MC Jones , CJ Harris , KM Riedhammer , D Choukair , PY Fechner , MM Rutter , SB Hufnagel , M Roifman , GB Kletter , E Delot , E Vilain , RJ Lipinski , CM Vezina , M Muenke , D Chitayat

To read the full abstract: Am J Hum Genet. 2020, Jan 2; 106: 121-8. doi: https://www.cell.com/ajhg/pdf/S0002-9297(19)30468-9.pdfProtein phosphatase 1, regulatory subunit 12a (PPP1R12A) is an important developmental factor involved in cell migration, adhesion, and morphogenesis. It is involved in the formation of myosin phosphatase and is regulated by phosphorylation.<p cla...

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ey0016.2-3 | Neonatal Hypoglycaemia | ESPEYB16

2.3. Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations

K Grand , C Gonzalez-Gandolfi , AM Ackermann , D Aljeaid , E Bedoukian , LM Bird , DD De Leon , J Diaz , RJ Hopkin , SP Kadakia , B Keena , K Klein , I Krantz , E Leon , K Lord , C McDougall , L Medne , CM Skraban , CA Stanley , J Tarpinian , E Zackai , MA Deardorff , JM Kalish

To read the full abstract: Am J Med Genet A. 2019 Apr;179(4):542551.This study describes 7 individuals with hyperinsulinemic hypoglycemia caused by NSD1 gene mutations with 3 having persistent hyperinsulinemic hypoglycemia.The underlying mechanisms that lead to hyperinsulinaemic hypoglycemia in Sotos syndrome are not known. Since most of the previous...

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ESPE Yearbook of Paediatric Endocrinology

6.9. Loss-of-function variants in PPP1R12A: From isolated sex reversal to holoprosencephaly spectrum and urogenital malformations

2.3. Hyperinsulinemic hypoglycemia in seven patients with de novo NSD1 mutations

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