GENETIC BASIS OF PIERRE ROBIN SYNDROME

L. Zucchinelli¹ and V. Spalice²

¹Private practice, Bergamo, Italy
²Department of Translational Medicine, University of Ferrara, 44121 Ferrara, Italy

Correspondence to:
Luciano Zucchinelli, MD
Private Practice,
Bergamo, Italy
e-mail: lucianozucch@tiscali.it

Received: 13 March 2023 Accepted: 20 April  2023

2038-4106(2023) Copyright © by BIOLIFE This publication and/or article is for individual use only and may not be further reproduced without written permission from the copyright holder. Unauthorized reproduction may result in financial and other penalties Disclosure: all authors report no conflicts of interest relevant to this article.

ABSTRACT

The clinical characteristic of Pierre Robin syndrome(/sequence) or PRS include glossoptosis, micrognathia, and blockage of the upper airways, commonly linked with a palatal cleft. It is a heterogenic pathogenic entity that can exist as an isolated disease or not syndromic nsPRS or in connection with some other syndromes or sPRS, with more prominent manifestations. Key phrases such as “Pierre Robin syndrome(/sequence)”, OR “PRS”, “genetic factor”, “genetics”, “mutations”, “mutations in PRS”, and “genetic relation” were used to search MEDLINE, PUBMED, and Google Scholar databases. The included methodological dataset was assessed using the EPPI (Evidence for Policy and Practice Information) Tool. The graphical depiction was produced using PRISMA flowchart generation. The data acquired from the systematic investigation showed that the deletion of chromosome 10q at the 4.34 Mb terminal and the microdeletion of gene 2q33 cause PRS. SOX9 is important in the development of illness. Comparing the amount and breakpoints of microdeletions as well as genotype-based associations led researchers to hypothesise that modulator genes near MN1 and NF2 may have an impact on the severity cleft palate. It is yet unknown how SOX9 mutant protein causes the symptoms of PRS. This study emphasises the requirement for early genetic counselling and testing in this community of patients, in addition to research efforts to create genetic classifications to guide clinical therapy.

KEYWORDS: genetic, syndromes, SOX9, Pierre Robin, palate, cleft