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

Zulvikar Syambani Ulhaq, Gita Vita Soraya, Lola Ayu Istifiani, Syafrizal Aji Pamungkas, Ditya Arisanti, Badariyatud Dini, Lina Fitria Astari, Yuliono Trika Nur Hasan, Prida Ayudianti, Muhammad A’raaf Sirojan Kusuma, Syifaus Shodry, Sarah Herawangsa, Dian Kesumapramudya Nurputra, Sri Idaiani, William Ka Fai Tse

研究成果: ジャーナルへの寄稿学術誌査読

4 被引用数 (Scopus)


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.

ジャーナルCleft Palate-Craniofacial Journal
出版ステータス出版済み - 4月 2024

!!!All Science Journal Classification (ASJC) codes

  • 口腔外科
  • 耳鼻咽喉科学


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