"Shifted" threshold may explain diversity of cardiovascular malformations in multiple congenital abnormalities syndromes: 3C (Ritscher-Schinzel) syndrome as an example

American Journal of Medical Genetics
I W Lurie, C Ferencz

Abstract

The analysis of cardiovascular malformations (CVM) in 3C (Ritscher-Schinzel) syndrome showed at least 9 types of CVM in 24 cases, including 4 cases from the Baltimore-Washington Infant Study. The proportion of different CVM forms was similar to that of the general population. The same is also true for many other syndromes of multiple congenital abnormalities (MCA), due either to aneuploidy or to Mendelian mutation. Such a wide spectrum of very different CVM in patients with the same entity has yet to be explained. According to the hypothesis proposed, the basic mutation (or chromosome imbalance) affects cellular homeostasis and leads to the "shifting" of a threshold to the left. This allows the expression of some genes silent under normal conditions. The principle of the shifted threshold is applicable to the explanation of the origin of many other defects in MCA syndromes.

References

May 1, 1992·Clinical Genetics·F Gurrieri, G Neri
Dec 1, 1989·Clinical Genetics·L C Mims, B Say
Jul 31, 1995·American Journal of Medical Genetics·M C DigilioB Dallapiccola
May 8, 1995·American Journal of Medical Genetics·S L MarlesA E Chudley

❮ Previous
Next ❯

Citations

Oct 3, 2003·Pediatrics International : Official Journal of the Japan Pediatric Society·Eleftheria HatzidakiChristina Giannakopoulou
Dec 2, 2014·International Journal of Surgery Case Reports·Mehmet Nuri KonyaMurat Yeşil
Nov 21, 2013·SpringerPlus·Kaitlyn J FriesenAlison M Elliott
Jun 1, 2006·European Journal of Human Genetics : EJHG·Harm-Jan StellingwerffLeo P ten Kate
Aug 3, 2001·American Journal of Medical Genetics·M L LeonardiR R Lebel
Mar 17, 2005·Clinical Dysmorphology·Eleftheria PapadopoulouMichael B Petersen
Dec 2, 1996·American Journal of Medical Genetics·F C Fraser

❮ Previous
Next ❯

Related Concepts

Related Feeds

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Related Papers

American Journal of Medical Genetics
M C DigilioB Dallapiccola
American Journal of Medical Genetics. Part C, Seminars in Medical Genetics
Sally Ann Lynch
Fundamental and Applied Toxicology : Official Journal of the Society of Toxicology
J B LaBordeD K Hansen
American Journal of Medical Genetics. Part a
Jorge S Lopez-CameloECLAMC (Estudio Colaborativo Latino Americano de Malformaciones Congénitas)
© 2021 Meta ULC. All rights reserved