Congenital hyperinsulinism caused by novel homozygous katp channel gene variants may be linked to unexplained neonatal deaths among kurdish consanguineous families

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F20%3A10410924" target="_blank" >RIV/00216208:11130/20:10410924 - isvavai.cz</a>

Alternative codes found

RIV/00064203:_____/20:10410924

Result on the web

<a href="https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=75US7JKpPW" target="_blank" >https://verso.is.cuni.cz/pub/verso.fpl?fname=obd_publikace_handle&handle=75US7JKpPW</a>

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1159/000506476" target="_blank" >10.1159/000506476</a>

Result language

angličtina

Original language name

Congenital hyperinsulinism caused by novel homozygous katp channel gene variants may be linked to unexplained neonatal deaths among kurdish consanguineous families

Original language description

Introduction: Neonatal hypoglycemia due to congenital hyperinsulinism (CHI) is a potentially life-threatening condition. Biallelic pathogenic variants in KATP channel subunit genes (ABCC8, KCNJ11), causing severe forms of CHI, are more prevalent in regions with a significant rate of consanguinity and may lead to unexplained neonatal deaths. We hypothesized that KATP channel gene variants are the cause of CHI in three unrelated children from consanguineous Kurdish families with histories of four unexplained neonatal deaths with convulsions. Cases: (1) A girl presented on the 6th day of life with recurrent hypoglycemic convulsions (blood glucose 2.05 mmol/L, insulin 58 mIU/L, C-peptide 2,242 pmol/L). (2) A girl with severe developmental delay was diagnosed with CHI at 3 years of age (blood glucose 2.78 mmol/L, insulin 8.1 mIU/L, C-peptide 761 pmol/L) despite a history of recurrent hypoglycemia since neonatal age. (3) A girl presented at 3 weeks of age with convulsions and unconsciousness (blood glucose 2.5 mmol/L, insulin 14.6 mIU/L, C-peptide 523 pmol/L). Coding regions of the ABCC8 and KCNJ11 genes were tested by Sanger sequencing. Potential variants were evaluated using the American College of Medical Genetics standards. Three novel causative homozygous variants were found - p.Trp514Ter in the ABCC8 gene (Pt2), and p.Met1Val (Pt1) and p.Tyr26Ter (Pt3) in the KCNJ11 gene. Conclusion: CHI caused by KATP channel variants was elucidated in three children, providing a highly probable retrospective diagnosis for their deceased siblings. Future lives can be saved by timely diagnosis of CHI when encountering a neonate with unexplained seizures or other signs of recurrent and/or persistent hypoglycemia.

Czech name

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Czech description

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Type

J_imp - Article in a specialist periodical, which is included in the Web of Science database

CEP classification

—

OECD FORD branch

30209 - Paediatrics

Project

<a href="/en/project/NV18-01-00078" target="_blank" >NV18-01-00078: Pancreatic beta cell-related genes and their role in the pathogenesis and treatment of monogenic diabetes</a><br>

Continuities

I - Institucionalni podpora na dlouhodoby koncepcni rozvoj vyzkumne organizace

Publication year

2020

Confidentiality

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Name of the periodical

Hormone Research in Paediatrics

ISSN

1663-2818

e-ISSN

—

Volume of the periodical

93

Issue of the periodical within the volume

1

Country of publishing house

CH - SWITZERLAND

Number of pages

8

Pages from-to

58-65

UT code for WoS article

000546456300007

EID of the result in the Scopus database

2-s2.0-85082527433