A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type.

Autor:	Ulhaq ZS; Laboratory of Developmental Disorders and Toxicology, Center for Promotion of International Education and Research, Kyushu University, Faculty of Agriculture, Fukuoka, Fukuoka, Japan.; Research Center for Pre-Clinical and Clinical Medicine, National Research and Innovation Agency Republic of Indonesia, Cibinong, Indonesia.; Department of Biomedical Science, Faculty of Medicine and Health Sciences, Maulana Malik Ibrahim State Islamic University, Malang, East Java, Indonesia., Soraya GV; Department of Biochemistry, Faculty of Medicine, Hasanuddin University, Makassar, Indonesia.; Department of Neurology, Faculty of Medicine, Hasanuddin University, Makassar, Indonesia., Istifiani LA; Department of Nutrition, Faculty of Health Sciences, Brawijaya University, Malang, East Java, Indonesia., Pamungkas SA; Al-Falah Social Fund Foundation Clinic (YDSF), Malang, Indonesia., Arisanti D; Department of Clinical Medicine, Faculty of Medicine and Health Science, Maulana Malik State Islamic University, Malang, Indonesia., Dini B; Department of Clinical Medicine, Faculty of Medicine and Health Science, Maulana Malik State Islamic University, Malang, Indonesia., Astari LF; Department of Clinical Medicine, Faculty of Medicine and Health Science, Maulana Malik State Islamic University, Malang, Indonesia., Hasan YTN; Department of Clinical Medicine, Faculty of Medicine and Health Science, Maulana Malik State Islamic University, Malang, Indonesia., Ayudianti P; Department of Clinical Medicine, Faculty of Medicine and Health Science, Maulana Malik State Islamic University, Malang, Indonesia., Kusuma MAS; Research Center for Pre-Clinical and Clinical Medicine, National Research and Innovation Agency Republic of Indonesia, Cibinong, Indonesia., Shodry S; Research Center for Pre-Clinical and Clinical Medicine, National Research and Innovation Agency Republic of Indonesia, Cibinong, Indonesia., Herawangsa S; Research Center for Pre-Clinical and Clinical Medicine, National Research and Innovation Agency Republic of Indonesia, Cibinong, Indonesia., Nurputra DK; Department of Child Health, Faculty of Medicine, Public Health and Nursing, Gadjah Mada University, Yogyakarta, Indonesia., Idaiani S; Research Center for Pre-Clinical and Clinical Medicine, National Research and Innovation Agency Republic of Indonesia, Cibinong, Indonesia., Tse WKF; Laboratory of Developmental Disorders and Toxicology, Center for Promotion of International Education and Research, Kyushu University, Faculty of Agriculture, Fukuoka, Fukuoka, Japan.
Jazyk:	angličtina
Zdroj:	The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association [Cleft Palate Craniofac J] 2024 Apr; Vol. 61 (4), pp. 688-696. Date of Electronic Publication: 2022 Nov 01.
DOI:	10.1177/10556656221136177
Abstrakt:	Objective: Genetic variants in EFTUD2 were proven to influence variable phenotypic expressivity in mandibulofacial dysostosis Guion-Almeida type (MFDGA) or mandibulofacial dysostosis with microcephaly (MFDM). Yet, the association between the severity of clinical findings with variants within the EFTUD2 gene has not been established. Thus, we aim to elucidate a possible genotype-phenotype correlation in MFDM. Methods: Forty articles comprising 156 patients were evaluated. The genotype-phenotype correlation was analyzed using a chi-square or Fisher's exact test. Results: The proportion of patients with MFDM was higher in Caucasian relative to Asian populations. Although, in general, there was no apparent genotype-phenotype correlation in patients with MFDM, Asians tended to have more severe clinical manifestations than Caucasians. In addition, cardiac abnormality presented in patients with intronic variants located in canonical splice sites was a predisposing factor in affecting MFDM severity. Conclusion: Altogether, this article provides the pathogenic variants observed in EFTUD2 and possible genotype-phenotype relationships in this disease. Competing Interests: Declaration of Conflicting InterestsThe authors declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Databáze:	MEDLINE
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