Analysis of interactions between genetic variants of BMP4 and environmental factors with nonsyndromic cleft lip with or without cleft palate susceptibility

As anomalias craniofaciais representam um grupo amplo de malformações congênitas que afetam uma grande proporção da sociedade mundial. Entre essas se encontram as fissuras de lábio e/ou de palato, anomalia orofacial mais frequente entre os seres humanos que ocasionam problemas estéticos e funcionais nos indivíduos afetados. A etiologia das fissuras labiopalatinas isoladas ou não-sindrômicas é complexa e multifatorial, associadas à fatores hereditários e ambientais. Este estudo teve como objetivo relatar os fatores genéticos e ambientais associados à etiologia desse tipo de malformação, através de uma revisão narrativa de literatura, a partir das bases de dados: PubMed e Scielo. Os descritores utilizados foram: cleft palate AND cleft lip AND etiology AND risk factors. Incluíram-se artigos nos idiomas inglês e português publicados em periódicos nacionais e internacionais acerca da temática da pesquisa. Baseado na revisão de literatura se pode identificar que os fatores ambientais como: fumo, consumo de álcool, consumo de medicamentos, o não uso de suplementação com polivitamínicos e ácido fólico, exposição a agrotóxicos, idade dos genitores podem aumentar a chance de ocorrência das fissuras labiopalatinas. O acompanhamento gestacional durante o primeiro trimestre gestacional se faz necessário, a fim de monitorar os fatores de risco associados com as fissuras labiopalatinas não sindrômicas. Palavras-chave: Fissura Palatina. Fenda Labial. Etiologia. Fatores de Risco. Abstract Craniofacial anomalies represent a broad group of congenital malformations that affect a large proportion of world society. Among them are cleft lip and / or palate, the most frequent orofacial anomaly among human beings that cause aesthetic and functional problems in the affected individuals. The etiology of isolated or non-syndromic cleft lip and palate is complex and multifactorial, associated with hereditary and environmental factors. This study aimed to report the genetic and environmental factors associated with the etiology of this type of malformation through a narrative literature review conducted in October 2020, using the PubMed and Scielo databases. The keywords used were cleft palate AND cleft lip AND etiology AND risk factors. Articles in English and Portuguese published in national and international journals about the research theme were included. Based on the literature review, it can be identified that environmental factors such as smoking, alcohol consumption, medication consumption, the non-use of supplementation with multivitamins and folic acid, exposure to pesticides, age of parents can increase the chance of cleft lip and palate occurrence. Gestational monitoring during the first trimester of pregnancy is necessary in order to monitor the risk factors associated with non-syndromic cleft lip and palate. Keywords: Cleft Palate. Cleft Lip. Etiology. Risk Factors.

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Genetic variants in BRIP1 (BACH1) contribute to risk of nonsyndromic cleft lip with or without cleft palate

Birth Defects Research Part A Clinical and Molecular Teratology ◽

10.1002/bdra.23275 ◽

2014 ◽

Vol 100 (9) ◽

pp. 670-678 ◽

Cited By ~ 3

Author(s):

Adrianna Mostowska ◽

Kamil K. Hozyasz ◽

Piotr Wójcicki ◽

Daria Galas-Filipowicz ◽

Agnieszka Lasota ◽

...

Keyword(s):

Cleft Palate ◽

Genetic Variants ◽

Cleft Lip

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Genetic variants in S-adenosyl-methionine synthesis pathway and nonsyndromic cleft lip with or without cleft palate in Chile

Pediatric Research ◽

10.1038/s41390-020-0994-3 ◽

2020 ◽

Author(s):

Carlos Salamanca ◽

Patricio González-Hormazábal ◽

Andrea S. Recabarren ◽

Pamela A. Recabarren ◽

Roberto Pantoja ◽

...

Keyword(s):

Cleft Palate ◽

Genetic Variants ◽

Cleft Lip ◽

Adenosyl Methionine ◽

Methionine Synthesis

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Feeding Appliance for an Infant with Cleft Palate: A Case Report

International Journal of Science and Healthcare Research ◽

10.52403/ijshr.20211011 ◽

2021 ◽

Vol 6 (4) ◽

pp. 71-75

Author(s):

Hilal Ahmad Hela ◽

Shazana Nazir ◽

Mehvash Qazi

Keyword(s):

Case Report ◽

Environmental Factors ◽

Cleft Palate ◽

Cleft Lip ◽

The Other ◽

Nutritional Deficiencies ◽

Chromosomal Disorders ◽

The Face ◽

Feeding Plate ◽

Proper Weight

The cleft palate is a ‘‘congenital defect of the middle third of the face that occurs when an oro-nasal communication is present between the palate and the base of the nose. Single genes, chromosomal disorders or environmental factors may cause clefts. The other possible causes are hormonal imbalances, nutritional deficiencies, infections, radiation during pregnancy, alcohol or cigarette consumption, the ingestion of other teratogenic substances by the mother, and heredity. Immediate problems to be addressed in a new born with this defect would be to aid in suckling and swallowing other problems associated later would be difficulty in speech, altered appearance, many dental problems and psychological problems. Feeding plate (obturator) rehabilitates the oro-nasal gap and helps in feeding and in reduction of airway problems, frequent infections and regurgitations. This paper presents a case report of an infant with cleft palate (Veau II) in whom a feeding plate was delivered, with a simple impression method, which helped the infant feed and restores the proper weight required for cleft palate reconstructive surgery in future. Keywords: Cleft Lip, Cleft Palate, Infant, Obturator

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Association Between SNPs in 1q32.2 and NSCL ± P in Han Chinese Population

The Cleft Palate-Craniofacial Journal ◽

10.1177/10556656211052837 ◽

2021 ◽

pp. 105566562110528

Author(s):

Bin Yin ◽

Jia-Yu Shi ◽

Bing Shi ◽

Qian Zheng ◽

Zhong-Lin Jia

Keyword(s):

Cleft Palate ◽

Genetic Variants ◽

Chinese Population ◽

Cleft Lip ◽

Medical Center ◽

R Package ◽

Han Chinese ◽

Han Chinese Population ◽

New Evidence ◽

Gwa Studies

Objectives Non-syndromic cleft lip with or without cleft palate (NSCL ± P) is one of the most common birth malformations. Currently, numerous susceptibility SNPs have been reported by GWA studies, however, the replications of them among NSCL ± P from Han Chinese were very limited. Design In this study, we selected 16 SNPs around 1q32.2 based on the published GWA studies and replicated them among 302 trios with NSCL ± P from Han Chinese Population. The genotypic data was analyzed with FBAT, PLINK and R package. Setting The study was conducted in a tertiary medical center. Patients, participants 302 patients with CL ± P and their parents. Main outcome measures To ascertain the genetic variants in 1q32.2 in patients with CL ± P in Han Chinese Population. Interventions Blood samples were collected. Results We found T allele ( Z = 4.26, p = 0.00002) and T/T homozygotes ( Z = 4.4, p = 0.000011) at rs12063989 was significantly over-transmitted among non-syndromic cleft lip with or without cleft palate (NSCL ± P). Conclusions We found rs12063989 exhibited significant association with the occurrence of NSCL ± P, which would provide new evidence for the future study in the etiology of NSCL ± P.

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Relationship between dermatoglyphics and cleft lip and/or palate: a review of literature

Revista Estomatología ◽

10.25100/re.v21i2.5762 ◽

2017 ◽

Vol 21 (2) ◽

pp. 20-25

Author(s):

Cristian Díaz ◽

Habib Barhoum

Keyword(s):

Environmental Factors ◽

Cleft Palate ◽

Key Words ◽

Cleft Lip ◽

Cleft Lip And Palate ◽

Embryonic Tissue ◽

Review Of Literature ◽

Orofacial Clefts ◽

Genetic And Environmental Factors ◽

Period Of Gestation

This article reviews the concepts associated with dermatoglyphs such as their classification, characteristics and applications. It also reviews orofacial clefts such as cleft lip and palate and proposes a possible relationship between dermatoglyphics and these orofacial clefts, entities that are considered isolated at first, but considering that they are derived from the same embryonic tissue, the ectoderm, and their development is in the same period of gestation, making genetic and environmental factors that would influence the development of the asyndromic lip and / or palate could be reflected in the fingerprints and the type of pattern that they follow. Key words: Cleft lip, dermatoglyphics, cleft palate, fingerprint.

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