ELMO2 biallelic pathogenic variants in a patient with gingival hypertrophy and cherubism phenotype: Case report and molecular review.

Autor: Perrone E; Hospital Israelita Albert Einstein, São Paulo, São Paulo, Brazil.; Departamento de Morfologia e Genética, Universidade Federal de São Paulo, São Paulo, Brazil., Coelho AVC; Hospital Israelita Albert Einstein, São Paulo, São Paulo, Brazil., Virmond LDA; Hospital Israelita Albert Einstein, São Paulo, São Paulo, Brazil., Espolaor JGA; Hospital Israelita Albert Einstein, São Paulo, São Paulo, Brazil.; Departamento de Morfologia e Genética, Universidade Federal de São Paulo, São Paulo, Brazil., Filho JBO; Hospital Israelita Albert Einstein, São Paulo, São Paulo, Brazil., Nascimento ATBD; Hospital Israelita Albert Einstein, São Paulo, São Paulo, Brazil., Matta MCD; Hospital Israelita Albert Einstein, São Paulo, São Paulo, Brazil., Meira JGC; Serviço de Genética Médica do Hospital Universitário Professor Edgard Santos (HUPES), Bahia, Brazil., Cardoso-Júnior LM; Serviço de Genética Médica, Hospital de Clínicas de Porto Alegre, Rio Grande do Sul, Brazil., Andrade ACM; Serviço de Genética Médica do Hospital Universitário Professor Edgard Santos (HUPES), Bahia, Brazil., Chaves RZT; Disciplina de Cirurgia de Cabeça e Pescoço do Hospital de Clínicas da Universidade de São Paulo, São Paulo, Brazil., Acosta AX; Serviço de Genética Médica do Hospital Universitário Professor Edgard Santos (HUPES), Bahia, Brazil.; Departamento de Pediatria da Faculdade de Medicina da Bahia, Universidade Federal da Bahia, Bahia, Brazil.
Jazyk: angličtina
Zdroj: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Oct; Vol. 194 (10), pp. e63602. Date of Electronic Publication: 2024 Mar 22.
DOI: 10.1002/ajmg.a.63602
Abstrakt: Ramon syndrome (OMIM #266270) was first described in a patient with cherubism, gingival fibromatosis, epilepsy, intellectual disability, hypertrichosis, and stunted growth. In 2018, Mehawej et al. described a patient with Ramon syndrome in whom a homozygous variant in ELMO2 was identified, suggesting that this gene may be the causative for this syndrome. ELMO2 biallelic pathogenic variants were also described in patients with a primary intraosseous vascular malformation (PIVM; OMIM #606893). These patients presented gingival bleeding and cherubism phenotype. Herein, a patient with gingival hypertrophy, neurodevelopmental delay, and cherubism phenotype with a novel homozygous predicted loss-of-function (LOF) variant in the ELMO2 gene and family recurrence was reported. A surgical approach to treat gingival bleeding and mandible vascular malformation was also described. Furthermore, this study includes a comprehensive literature review of molecular data regarding the ELMO2 gene. All the variants, except one described in the ELMO2, were predicted as LOF, including our patient's variant. There is an overlapping between PIVM, also caused by LOF biallelic variants in the ELMO2 gene, and Ramon syndrome, which can suggest that they are not different entities. However, due to a limited number of cases described with molecular evaluation, it is hard to establish a genotype-phenotype correlation. Our study supports that LOF pathogenic biallelic variants in the ELMO2 gene cause a phenotype that has cherubism and gingival hypertrophy as main characteristics.
(© 2024 Wiley Periodicals LLC.)
Databáze: MEDLINE
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