Cargando…
Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis
Background: Wolf-Hirschhorn syndrome (WHS) is a rare disease caused by deletion in the distal moiety of the short arm of chromosome 4. The objectives of this study were to report the most representative oral findings of WHS, relate them with other clinical characteristics of the disease, and establi...
Autores principales: | , , , , , , , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
MDPI
2020
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7694380/ https://www.ncbi.nlm.nih.gov/pubmed/33158290 http://dx.doi.org/10.3390/jcm9113556 |
_version_ | 1783614964209025024 |
---|---|
author | Limeres, Jacobo Serrano, Candela De Nova, Joaquin Manuel Silvestre-Rangil, Javier Machuca, Guillermo Maura, Isabel Cruz Ruiz-Villandiego, Jose Diz, Pedro Blanco-Lago, Raquel Nevado, Julian Diniz-Freitas, Marcio |
author_facet | Limeres, Jacobo Serrano, Candela De Nova, Joaquin Manuel Silvestre-Rangil, Javier Machuca, Guillermo Maura, Isabel Cruz Ruiz-Villandiego, Jose Diz, Pedro Blanco-Lago, Raquel Nevado, Julian Diniz-Freitas, Marcio |
author_sort | Limeres, Jacobo |
collection | PubMed |
description | Background: Wolf-Hirschhorn syndrome (WHS) is a rare disease caused by deletion in the distal moiety of the short arm of chromosome 4. The objectives of this study were to report the most representative oral findings of WHS, relate them with other clinical characteristics of the disease, and establish possible phenotype-genotype correlation. Methods: The study was conducted at 6 reference centers distributed throughout Spain during 2018–2019. The study group consisted of 31 patients with WHS who underwent a standardized oral examination. Due to behavioral reasons, imaging studies were performed on only 11 of the children 6 years of age or older. All participants had previously undergone a specific medical examination for WHS, during which anatomical, functional, epilepsy-related, and genetic variables were recorded. Results: The most prevalent oral manifestations were delayed tooth eruption (74.1%), bruxism (64.5%), dental agenesis (63.6%), micrognathia (60.0%), oligodontia (45.5%), and downturned corners of the mouth (32.3%). We detected strong correlation between psychomotor delay and oligodontia (p = 0.008; Cramér’s V coefficient, 0.75). The size of the deletion was correlated in a statistically significant manner with the presence of oligodontia (p = 0.009; point-biserial correlation coefficient, 0.75). Conclusion: Certain oral manifestations prevalent in WHS can form part of the syndrome’s phenotypic variability. A number of the characteristics of WHS, such as psychomotor delay and epilepsy, are correlated with oral findings such as oligodontia and bruxism. Although most genotype-phenotype correlations are currently unknown, most of them seem to be associated with larger deletions, suggesting that some oral-facial candidate genes might be outside the critical WHS region, indicating that WHS is a contiguous gene syndrome. |
format | Online Article Text |
id | pubmed-7694380 |
institution | National Center for Biotechnology Information |
language | English |
publishDate | 2020 |
publisher | MDPI |
record_format | MEDLINE/PubMed |
spelling | pubmed-76943802020-11-28 Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis Limeres, Jacobo Serrano, Candela De Nova, Joaquin Manuel Silvestre-Rangil, Javier Machuca, Guillermo Maura, Isabel Cruz Ruiz-Villandiego, Jose Diz, Pedro Blanco-Lago, Raquel Nevado, Julian Diniz-Freitas, Marcio J Clin Med Article Background: Wolf-Hirschhorn syndrome (WHS) is a rare disease caused by deletion in the distal moiety of the short arm of chromosome 4. The objectives of this study were to report the most representative oral findings of WHS, relate them with other clinical characteristics of the disease, and establish possible phenotype-genotype correlation. Methods: The study was conducted at 6 reference centers distributed throughout Spain during 2018–2019. The study group consisted of 31 patients with WHS who underwent a standardized oral examination. Due to behavioral reasons, imaging studies were performed on only 11 of the children 6 years of age or older. All participants had previously undergone a specific medical examination for WHS, during which anatomical, functional, epilepsy-related, and genetic variables were recorded. Results: The most prevalent oral manifestations were delayed tooth eruption (74.1%), bruxism (64.5%), dental agenesis (63.6%), micrognathia (60.0%), oligodontia (45.5%), and downturned corners of the mouth (32.3%). We detected strong correlation between psychomotor delay and oligodontia (p = 0.008; Cramér’s V coefficient, 0.75). The size of the deletion was correlated in a statistically significant manner with the presence of oligodontia (p = 0.009; point-biserial correlation coefficient, 0.75). Conclusion: Certain oral manifestations prevalent in WHS can form part of the syndrome’s phenotypic variability. A number of the characteristics of WHS, such as psychomotor delay and epilepsy, are correlated with oral findings such as oligodontia and bruxism. Although most genotype-phenotype correlations are currently unknown, most of them seem to be associated with larger deletions, suggesting that some oral-facial candidate genes might be outside the critical WHS region, indicating that WHS is a contiguous gene syndrome. MDPI 2020-11-04 /pmc/articles/PMC7694380/ /pubmed/33158290 http://dx.doi.org/10.3390/jcm9113556 Text en © 2020 by the authors. Licensee MDPI, Basel, Switzerland. This article is an open access article distributed under the terms and conditions of the Creative Commons Attribution (CC BY) license (http://creativecommons.org/licenses/by/4.0/). |
spellingShingle | Article Limeres, Jacobo Serrano, Candela De Nova, Joaquin Manuel Silvestre-Rangil, Javier Machuca, Guillermo Maura, Isabel Cruz Ruiz-Villandiego, Jose Diz, Pedro Blanco-Lago, Raquel Nevado, Julian Diniz-Freitas, Marcio Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis |
title | Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis |
title_full | Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis |
title_fullStr | Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis |
title_full_unstemmed | Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis |
title_short | Oral Manifestations of Wolf-Hirschhorn Syndrome: Genotype-Phenotype Correlation Analysis |
title_sort | oral manifestations of wolf-hirschhorn syndrome: genotype-phenotype correlation analysis |
topic | Article |
url | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7694380/ https://www.ncbi.nlm.nih.gov/pubmed/33158290 http://dx.doi.org/10.3390/jcm9113556 |
work_keys_str_mv | AT limeresjacobo oralmanifestationsofwolfhirschhornsyndromegenotypephenotypecorrelationanalysis AT serranocandela oralmanifestationsofwolfhirschhornsyndromegenotypephenotypecorrelationanalysis AT denovajoaquinmanuel oralmanifestationsofwolfhirschhornsyndromegenotypephenotypecorrelationanalysis AT silvestrerangiljavier oralmanifestationsofwolfhirschhornsyndromegenotypephenotypecorrelationanalysis AT machucaguillermo oralmanifestationsofwolfhirschhornsyndromegenotypephenotypecorrelationanalysis AT mauraisabel oralmanifestationsofwolfhirschhornsyndromegenotypephenotypecorrelationanalysis AT cruzruizvillandiegojose oralmanifestationsofwolfhirschhornsyndromegenotypephenotypecorrelationanalysis AT dizpedro oralmanifestationsofwolfhirschhornsyndromegenotypephenotypecorrelationanalysis AT blancolagoraquel oralmanifestationsofwolfhirschhornsyndromegenotypephenotypecorrelationanalysis AT nevadojulian oralmanifestationsofwolfhirschhornsyndromegenotypephenotypecorrelationanalysis AT dinizfreitasmarcio oralmanifestationsofwolfhirschhornsyndromegenotypephenotypecorrelationanalysis |