TY - JOUR
T1 - A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type
AU - Ulhaq, Zulvikar Syambani
AU - Soraya, Gita Vita
AU - Istifiani, Lola Ayu
AU - Pamungkas, Syafrizal Aji
AU - Arisanti, Ditya
AU - Dini, Badariyatud
AU - Astari, Lina Fitria
AU - Hasan, Yuliono Trika Nur
AU - Ayudianti, Prida
AU - Kusuma, Muhammad A’raaf Sirojan
AU - Shodry, Syifaus
AU - Herawangsa, Sarah
AU - Nurputra, Dian Kesumapramudya
AU - Idaiani, Sri
AU - Tse, William Ka Fai
N1 - Funding Information:
The authors disclosed receipt of the following financial support for the research, authorship, and/or publication of this article: ZSU is supported by Takeda Science Foundation’s International Fellowship Program for Foreign Researchers (2020).
Publisher Copyright:
© 2022, American Cleft Palate-Craniofacial Association.
PY - 2022
Y1 - 2022
N2 - 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.
AB - 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.
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U2 - 10.1177/10556656221136177
DO - 10.1177/10556656221136177
M3 - Article
C2 - 36317361
AN - SCOPUS:85141385367
JO - Cleft Palate-Craniofacial Journal
JF - Cleft Palate-Craniofacial Journal
SN - 1055-6656
ER -