Identification of genomic imbalances in oral clefts

Author(s)

Lustosa-Mendes, Elaine ^{[1, 2]} ; dos Santos, Ana P. ^[1] ; Vieira, Tarsis P. ^[1] ; Ribeiro, Erlane M. ^[3] ; Rezende, Adriana A. ^[4] ; Fett-Conte, Agnes C. ^[5] ; Cavalcanti, Denise P. ^[6] ; Felix, Temis M. ^[7] ; Monlleo, Isabella L. ^[8] ; Gil-da-Silva-Lopes, Vera Lucia ^[1]

Affiliation

^[1] Univ Campinas Unicamp, Fac Ciencias Med, Dept Genet Med & Med Genom, Campinas, SP - Brazil

^[2] Hosp Trabalhador CAIF HT, Ctr Atendimento Integral Fissurado Labio Palatal, Curitiba, Parana - Brazil

^[3] Hosp Infantil Albert Sabin HIAS, Serv Genet Med, Fortaleza, Ceara - Brazil

^[4] Univ Fed Rio Grande do Norte UFRN, Hosp Univ Onofre Lopes HUOL, Empresa Brasileira Serv Hosp EBSERH, Natal, RN - Brazil

^[5] Fac Med Sao Jose do Rio Preto FAMERP FUNFARME, Dept Biol Mol, Sao Jose Do Rio Preto, SP - Brazil

^[6] Univ Campinas Unicamp, Fac Ciencias Med, Dept Genet Med & Med Genom, Programa Genet Perinatal, Campinas, SP - Brazil

^[7] Hosp Clin Porto Alegre HCPA, Serv Genet Med, Porto Alegre, RS - Brazil

^[8] Univ Fed Alagoas UFAL, Hosp Univ, Fac Med, Serv Genet Clin, Setor Genet Med, Maceio, Alagoas - Brazil

• Document type: Journal article
• Source: Jornal de Pediatria; v. 97, n. 3, p. 321-328, MAY-JUN 2021.
• Web of Science Citations: 1

Abstract

Abstract Objective This article presents a clinical and cytogenomic approach that focuses on the diagnosis of syndromic oral clefts (OCs). Methods The inclusion criteria were individuals with OC presenting four or more minor signs and no major defects (non-syndromic oral clefts [NSOCs]) as well as individuals with OC presenting at least another major defect, regardless of the number of minor signs (syndromic oral clefts [SOCs]). The exclusion criteria included NSOC with less than four minor signs, SOC with known etiology, as well as atypical oral clefts. Results Of 1647 individuals with OC recorded in the Brazilian Database of Craniofacial Anomalies, 100 individuals were selected for chromosome microarray analysis (CMA). Among these, 44 individuals were clinically classified as NSOC and 56 as SOC. CMA was performed for both groups, and abnormal CMA was identified in 9%, all previously classified as SCO. The clinical and CMA data analyses showed a significant predominance of abnormal CMA in individuals classified as SOC (p = 0.0044); prematurity, weight, length, and head circumference at birth were significantly lower in the group with abnormal CMA. Besides, minor signs were significantly higher in this group (p = 0.0090). Conclusion The rigorous selection of cases indicates that the significant variables could help in early recognition of SOC. This study reinforces the importance of applying the CMA technique to establish the diagnosis of SOC. This is an important and universal issue in clinical practice for intervention, care, and genetic counseling. (AU)

• FAPESP's process: 12/51799-6 - Consolidation of a multicentric strategy in genetics for database and diagnostic on orofacial clefts
• Grantee: Vera Lúcia Gil da Silva Lopes
• Support Opportunities: Research Grants - Research in Public Policies for the National Health Care System (PP-SUS)