Literature DB >> 21353246

Hepatocyte nuclear factor 4α gene mutation associated with familial neonatal hyperinsulinism and maturity-onset diabetes of the young.

Mia M Pingul1, Nkecha Hughes, Anthony Wu, Charles A Stanley, Philip A Gruppuso.   

Abstract

Neonatal macrosomia and hyperinsulinemic hypoglycemia with strong family history of diabetes may indicate monogenic diabetes. Here we report a family in which 4 individuals in 3 generations were found to have a mutation (Arg80Gln) in hepatocyte nuclear factor 4α. Genetic testing was a factor in choosing sulfonylurea therapy for diabetes.
Copyright © 2011 Mosby, Inc. All rights reserved.

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Year:  2011        PMID： 21353246     DOI： 10.1016/j.jpeds.2011.01.003

Source DB:  PubMed          Journal:  J Pediatr        ISSN： 0022-3476            Impact factor:   4.406


  15 in total

1.  Novel presentations of congenital hyperinsulinism due to mutations in the MODY genes: HNF1A and HNF4A.

Authors:  Diana E Stanescu; Nkecha Hughes; Bernard Kaplan; Charles A Stanley; Diva D De León
Journal:  J Clin Endocrinol Metab       Date:  2012-07-16       Impact factor: 5.958

2.  Genotype and phenotype correlations in 417 children with congenital hyperinsulinism.

Authors:  K E Snider; S Becker; L Boyajian; S-L Shyng; C MacMullen; N Hughes; K Ganapathy; T Bhatti; C A Stanley; A Ganguly
Journal:  J Clin Endocrinol Metab       Date:  2012-12-28       Impact factor: 5.958

Review 3.  Variable phenotypes of individual and family monogenic cases with hyperinsulinism and diabetes: a systematic review.

Authors:  Kevin Perge; Marc Nicolino
Journal:  Rev Endocr Metab Disord       Date:  2022-08-23       Impact factor: 9.306

4.  Localized islet nuclear enlargement hyperinsulinism (LINE-HI) due to ABCC8 and GCK mosaic mutations.

Authors:  Kara E Boodhansingh; Zhongying Yang; Changhong Li; Pan Chen; Katherine Lord; Susan A Becker; Lisa J States; N Scott Adzick; Tricia Bhatti; Show-Ling Shyng; Arupa Ganguly; Charles A Stanley; Diva D De Leon
Journal:  Eur J Endocrinol       Date:  2022-06-27       Impact factor: 6.558

Review 5.  Genetic characteristics of patients with congenital hyperinsulinism.

Authors:  Mary Ellen Vajravelu; Diva D De León
Journal:  Curr Opin Pediatr       Date:  2018-08       Impact factor: 2.856

Review 6.  Clinical Management of Women with Monogenic Diabetes During Pregnancy.

Authors:  Laura T Dickens; Rochelle N Naylor
Journal:  Curr Diab Rep       Date:  2018-02-15       Impact factor: 4.810

7.  Clinical heterogeneity of hyperinsulinism due to HNF1A and HNF4A mutations.

Authors:  Joanna Yuet-Ling Tung; Kara Boodhansingh; Charles A Stanley; Diva D De León
Journal:  Pediatr Diabetes       Date:  2018-03-01       Impact factor: 4.866

Review 8.  Hyperinsulinaemic hypoglycaemia: genetic mechanisms, diagnosis and management.

Authors:  Senthil Senniappan; Balasubramaniam Shanti; Chela James; Khalid Hussain
Journal:  J Inherit Metab Dis       Date:  2012-01-10       Impact factor: 4.982

9.  Heterozygous recurrent HNF4A variant p.Arg85Trp causes Fanconi renotubular syndrome 4 with maturity onset diabetes of the young, an autosomal dominant phenocopy of Fanconi Bickel syndrome with colobomas.

Authors:  Sarah E Sheppard; Brett Barrett; Colleen Muraresku; Heather McKnight; Diva D De Leon; Katherine Lord; Rebecca Ganetzky
Journal:  Am J Med Genet A       Date:  2020-11-30       Impact factor: 2.802

10.  The molecular mechanisms, diagnosis and management of congenital hyperinsulinism.

Authors:  Senthil Senniappan; Ved Bhushan Arya; Khalid Hussain
Journal:  Indian J Endocrinol Metab       Date:  2013-01
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