A case report with functional characterization of a <i>HNF1B</i> mutation (p.Leu168Pro) causing MODY5-Reference-Cited by-同舟云学术

A case report with functional characterization of a HNF1B mutation (p.Leu168Pro) causing MODY5

Published:2021 Issue:4 Volume:30 Page:179-185
ISSN:0918-5739
Container-title:Clinical Pediatric Endocrinology
language:en
Short-container-title:Clin Pediatr Endocrinol

Author:

Yoshida Kei¹,Mushimoto Yuichi²,Tanase-Nakao Kanako¹,Akiba Kazuhisa¹,Ishii Kanako²,Urakami Tatsuhiko³,Sugihara Shigetaka⁴,Kikuchi Toru⁵,Fukami Maki¹,Narumi Satoshi¹,

Affiliation:

1. Department of Molecular Endocrinology, National Research Institute for Child Health and Development, Tokyo, Japan

2. Department of Pediatrics, Graduate School of Medical Sciences, Kyushu University, Fukuoka, Japan

3. Department of Pediatrics and Child Health, Nihon University School of Medicine, Tokyo, Japan

4. Department of Pediatrics, Tokyo Women’s Medical University Medical Center East, Tokyo, Japan

5. Department of Pediatrics, Saitama Medical University, Saitama, Japan

Publisher

Japanese Society for Pediatric Endocrinology

Subject

Endocrinology,Endocrinology, Diabetes and Metabolism,Pediatrics, Perinatology, and Child Health

Link

https://www.jstage.jst.go.jp/article/cpe/30/4/30_2021-0033/_pdf

Reference30 articles.

1. 1. Delvecchio, M, Pastore, C, Giordano, P. Treatment options for MODY patients: A systematic review of jiterature. Diabetes Ther 2020;11: 1667–85.

2. 2. Froguel, P, Zouali, H, Vionnet, N, Velho, G, Vaxillaire, M, Sun, F, et al. Familial hyperglycemia due to mutations in glucokinase. Definition of a subtype of diabetes mellitus. N Engl J Med 1993;328: 697–702.

3. 3. Costa, A, Bescós, M, Velho, G, Chêvre, J, Vidal, J, Sesmilo, G, et al. Genetic and clinical characterisation of maturity-onset diabetes of the young in Spanish families. Eur J Endocrinol 2000;142: 380–6.

4. 4. Lehto, M, Wipemo, C, Ivarsson, SA, Lindgren, C, Lipsanen-Nyman, M, Weng, J, et al. High frequency of mutations in MODY and mitochondrial genes in Scandinavian patients with familial early-onset diabetes. Diabetologia 1999;42: 1131–7.

5. 5. Fendler, W, Borowiec, M, Baranowska-Jazwiecka, A, Szadkowska, A, Skala-Zamorowska, E, Deja, G, et al. Prevalence of monogenic diabetes amongst Polish children after a nationwide genetic screening campaign. Diabetologia 2012;55: 2631–5.

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