The invaluable role of consanguinity in providing insight into paediatric endocrine conditions: Lessons learned from congenital hyperinsulinism, monogenic diabetes, and short stature

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216208%3A11130%2F22%3A10437752" target="_blank" >RIV/00216208:11130/22:10437752 - isvavai.cz</a>

Alternative codes found

RIV/00064203:_____/22:10437752

Result on the web

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

DOI - Digital Object Identifier

<a href="http://dx.doi.org/10.1159/000521210" target="_blank" >10.1159/000521210</a>

Result language

angličtina

Original language name

The invaluable role of consanguinity in providing insight into paediatric endocrine conditions: Lessons learned from congenital hyperinsulinism, monogenic diabetes, and short stature

Original language description

Consanguineous families have often played a role in the discovery of novel genes, especially in paediatric endocrinology. At this time, it has been estimated that over 8.5% of all children worldwide have consanguineous parents. Consanguinity is linked to demographic, cultural and religious practises and is more common in some areas around the world than others. In children with endocrine conditions from consanguineous families, there is a greater probability that a single gene condition with autosomal recessive inheritance is causative. From 1966 and the first description of Laron syndrome, through the discovery of the first KATP channel genes ABCC8 and KCNJ11 causing congenital hyperinsulinism in the 1990s, to recent discoveries of mutations in YIPF5 as the first cause of monogenic diabetes due to the disruption of the endoplasmic reticulum (ER)-to-Golgi trafficking in the β-cell and increased ER stress; positive genetic findings in children from consanguinity have been important in elucidating novel genes and mechanisms of disease, thereby expanding knowledge into disease pathophysiology. The aim of this narrative review is to shed light on the lessons learned from consanguineous pedigrees with the help of three fundamental endocrine conditions that represent an evolving spectrum of pathophysiological complexity - from congenital hyperinsulinism, a typically single cell condition, to monogenic diabetes which presents with uniform biochemical parameters (hyperglycaemia and glycosuria), despite varying aetiologies, up to the genetic regulation of human growth - the most complex developmental phenomenon.

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

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OECD FORD branch

30209 - Paediatrics

Project

Result was created during the realization of more than one project. More information in the Projects tab.

Continuities

P - Projekt vyzkumu a vyvoje financovany z verejnych zdroju (s odkazem do CEP)

Publication year

2022

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

1663-2826

Volume of the periodical

95

Issue of the periodical within the volume

1

Country of publishing house

CH - SWITZERLAND

Number of pages

11

Pages from-to

1-11

UT code for WoS article

000924453600001

EID of the result in the Scopus database

2-s2.0-85123546181