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

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 EFT...

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Main Authors: Ulhaq, Zulvikar Syambani, Soraya, Gita Vita, Istifiani, Lola Ayu, Pamungkas, Syafrizal Aji, Arisanti, Ditya, Dini, Badariyatud, Astari, Lina Fitria, Hasan, Yuliono Trika Nur, Ayudianti, Prida, Kusuma, Muhammad A’raaf Sirojan, Shodry, Syifaus, Herawangsa, Sarah, Nurputra, Dian Kesumapramudya, Idaiani, Sri, Tse, William Ka Fai
格式: Article PeerReviewed
語言:English
出版: American Cleft Palate Craniofacial Association 2022
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在線閱讀:https://repository.ugm.ac.id/278889/1/Nurputra_KKMK.pdf
https://repository.ugm.ac.id/278889/
https://journals.sagepub.com/home/cpc
https://doi.org/0.1177/10556656221136177
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spelling id-ugm-repo.2788892023-11-01T08:47:49Z https://repository.ugm.ac.id/278889/ A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type Ulhaq, Zulvikar Syambani Soraya, Gita Vita Istifiani, Lola Ayu Pamungkas, Syafrizal Aji Arisanti, Ditya Dini, Badariyatud Astari, Lina Fitria Hasan, Yuliono Trika Nur Ayudianti, Prida Kusuma, Muhammad A’raaf Sirojan Shodry, Syifaus Herawangsa, Sarah Nurputra, Dian Kesumapramudya Idaiani, Sri Tse, William Ka Fai Clinical Sciences 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 chisquare 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. American Cleft Palate Craniofacial Association 2022 Article PeerReviewed application/pdf en https://repository.ugm.ac.id/278889/1/Nurputra_KKMK.pdf Ulhaq, Zulvikar Syambani and Soraya, Gita Vita and Istifiani, Lola Ayu and Pamungkas, Syafrizal Aji and Arisanti, Ditya and Dini, Badariyatud and Astari, Lina Fitria and Hasan, Yuliono Trika Nur and Ayudianti, Prida and Kusuma, Muhammad A’raaf Sirojan and Shodry, Syifaus and Herawangsa, Sarah and Nurputra, Dian Kesumapramudya and Idaiani, Sri and Tse, William Ka Fai (2022) A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type. American Cleft Palate- Craniofacial Association, 2022. pp. 1-9. ISSN 1545-1569 https://journals.sagepub.com/home/cpc https://doi.org/0.1177/10556656221136177
institution Universitas Gadjah Mada
building UGM Library
continent Asia
country Indonesia
Indonesia
content_provider UGM Library
collection Repository Civitas UGM
language English
topic Clinical Sciences
spellingShingle Clinical Sciences
Ulhaq, Zulvikar Syambani
Soraya, Gita Vita
Istifiani, Lola Ayu
Pamungkas, Syafrizal Aji
Arisanti, Ditya
Dini, Badariyatud
Astari, Lina Fitria
Hasan, Yuliono Trika Nur
Ayudianti, Prida
Kusuma, Muhammad A’raaf Sirojan
Shodry, Syifaus
Herawangsa, Sarah
Nurputra, Dian Kesumapramudya
Idaiani, Sri
Tse, William Ka Fai
A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type
description 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 chisquare 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.
format Article
PeerReviewed
author Ulhaq, Zulvikar Syambani
Soraya, Gita Vita
Istifiani, Lola Ayu
Pamungkas, Syafrizal Aji
Arisanti, Ditya
Dini, Badariyatud
Astari, Lina Fitria
Hasan, Yuliono Trika Nur
Ayudianti, Prida
Kusuma, Muhammad A’raaf Sirojan
Shodry, Syifaus
Herawangsa, Sarah
Nurputra, Dian Kesumapramudya
Idaiani, Sri
Tse, William Ka Fai
author_facet Ulhaq, Zulvikar Syambani
Soraya, Gita Vita
Istifiani, Lola Ayu
Pamungkas, Syafrizal Aji
Arisanti, Ditya
Dini, Badariyatud
Astari, Lina Fitria
Hasan, Yuliono Trika Nur
Ayudianti, Prida
Kusuma, Muhammad A’raaf Sirojan
Shodry, Syifaus
Herawangsa, Sarah
Nurputra, Dian Kesumapramudya
Idaiani, Sri
Tse, William Ka Fai
author_sort Ulhaq, Zulvikar Syambani
title A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type
title_short A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type
title_full A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type
title_fullStr A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type
title_full_unstemmed A Brief Analysis on Clinical Severity of Mandibulofacial Dysostosis Guion-Almeida Type
title_sort brief analysis on clinical severity of mandibulofacial dysostosis guion-almeida type
publisher American Cleft Palate Craniofacial Association
publishDate 2022
url https://repository.ugm.ac.id/278889/1/Nurputra_KKMK.pdf
https://repository.ugm.ac.id/278889/
https://journals.sagepub.com/home/cpc
https://doi.org/0.1177/10556656221136177
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