Atypical familial diabetes associated with a novel NEUROD1 nonsense variant

被引：0
|
作者：
Muehrer, Julia [2 ,3 ]
Lang-Muritano, Mariarosaria [2 ,3 ]
Lehmann, Roger [4 ,5 ]
Blouin, Jean-Louis [6 ,7 ]
Schwitzgebel, Valerie M. [1 ]
机构：
[1] Univ Hosp Geneva, Dept Pediat Gynecol & Obstet, Pediat Endocrine & Diabet Unit, 6 Rue Willy Donze, CH-1211 Geneva, Switzerland
[2] Univ Childrens Hosp, Div Pediat Endocrinol & Diabetol, Zurich, Switzerland
[3] Univ Childrens Hosp, Childrens Res Ctr, Zurich, Switzerland
[4] Univ Hosp Zurich, Dept Endocrinol Diabet & Clin Nutr, Zurich, Switzerland
[5] Univ Hosp Zurich, Transplant Ctr, Zurich, Switzerland
[6] Univ Geneva, Fac Med, Dept Genet Med & Dev, Geneva, Switzerland
[7] Univ Hosp Geneva, Dept Diagnost, Geneva, Switzerland
来源：
JOURNAL OF PEDIATRIC ENDOCRINOLOGY & METABOLISM | 2023年 / 36卷 / 01期
基金：
瑞士国家科学基金会;
关键词：
high throughput sequencing; MODY; monogenic diabetes; GENES;
D O I：
10.1515/jpem-2022-0356
中图分类号：
R5 [内科学];
学科分类号：
1002 ; 100201 ;
摘要：
Objectives We aimed to identify the origin of atypical diabetes in a family with four generations of diabetes from South Asia. The family members showed different clinical phenotypes. Members of generation one to three were presumed to have type 2 diabetes and generation four to have type 1 diabetes. Case presentation We performed a genetic analysis of the family using targeted high throughput sequencing. Conclusions We identified a novel nonsense variant in the neurogenic differentiation 1 (NEUROD1) gene, co-segregating with diabetes. The variant was located in the DNA-binding domain, altering a protein residue that was very well conserved among different species.
引用
收藏
页码：101 / 104
页数：4
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