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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American Cleft Palate Craniofacial Association
2022
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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 |
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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 |
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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 |
_version_ |
1781413310098309120 |