Interstitial 8p Deletion in Two Patients with the Expansion of Phenotype and Possibility of Contribution of PINX1 Gene and GATA4 rs3729856 Variant in Absent Nails
Mohamed, A., Mahmoud, W., Fayez, A., Elgerzawi, A., Ashaat, E., Zaki, M., Helmy, N., Eid, O., Kamel, A. (2024). Interstitial 8p Deletion in Two Patients with the Expansion of Phenotype and Possibility of Contribution of PINX1 Gene and GATA4 rs3729856 Variant in Absent Nails. EKB Journal Management System, 13(2), -. doi: 10.21608/mxe.2024.319392.1030
Amal Mohamed; Wael M. Mahmoud; Alaaeldin Fayez; Asaad Elgerzawi; Engy Ashaat; Maha S Zaki; Nivine Helmy; Ola M. Eid; Alaa K Kamel. "Interstitial 8p Deletion in Two Patients with the Expansion of Phenotype and Possibility of Contribution of PINX1 Gene and GATA4 rs3729856 Variant in Absent Nails". EKB Journal Management System, 13, 2, 2024, -. doi: 10.21608/mxe.2024.319392.1030
Mohamed, A., Mahmoud, W., Fayez, A., Elgerzawi, A., Ashaat, E., Zaki, M., Helmy, N., Eid, O., Kamel, A. (2024). 'Interstitial 8p Deletion in Two Patients with the Expansion of Phenotype and Possibility of Contribution of PINX1 Gene and GATA4 rs3729856 Variant in Absent Nails', EKB Journal Management System, 13(2), pp. -. doi: 10.21608/mxe.2024.319392.1030
Mohamed, A., Mahmoud, W., Fayez, A., Elgerzawi, A., Ashaat, E., Zaki, M., Helmy, N., Eid, O., Kamel, A. Interstitial 8p Deletion in Two Patients with the Expansion of Phenotype and Possibility of Contribution of PINX1 Gene and GATA4 rs3729856 Variant in Absent Nails. EKB Journal Management System, 2024; 13(2): -. doi: 10.21608/mxe.2024.319392.1030

Interstitial 8p Deletion in Two Patients with the Expansion of Phenotype and Possibility of Contribution of PINX1 Gene and GATA4 rs3729856 Variant in Absent Nails

Middle East Journal of Medical Genetics
Volume 13, Issue 2, July 2024    PDF (738.07 K)
Document Type: Original Article
DOI: 10.21608/mxe.2024.319392.1030
Authors
Amal Mohamed* 1; Wael M. Mahmoud2; Alaaeldin Fayez3; Asaad Elgerzawi2; Engy Ashaat4; Maha S Zaki4; Nivine Helmy4; Ola M. Eid4; Alaa K Kamel4
1National Research Centre
2NRC
3Molecular Genetics and Enzymology Department, Human Genetics and Genome Research Institute, National Research Centre, Giza, EGYPT
4El Buhouth street , Dokki
Abstract
Background: The short arm of chromosome 8 is subjected to recurrent genomic imbalances. We aimed to delineate the genotype/phenotype correlations of different 8p deleted segments and predict the candidate gene for absent nails (anonychia). Methods: In this study we present two patients with interstitial 8p deletion. The first is a male patient presented with failure to thrive, seizures, hypotonia, absent nails, congenital heart disease, microcephaly, and hypogenesis of corpus callosum.
Results: Array CGH showed 18.6 Mb in 8p23.2p21.3 deletion that involved GATA4 gene. Sequencing of GATA4 gene disclosed likely pathogenic variant rs3729856 (Ser378Gly) in the other allele. The second patient was a female presented with developmental delay, dysmorphic features, microcephaly, hypotonia, brain atrophy, and hypogenesis of corpus callosum. Array CGH showed a 25.6 Mb 8p22p12 deletion. We divided the deleted regions into three parts, and we tried to specify phenotype correlated to each region.
Conclusion: We predict that anonychia in the 1st patient may be due to deletion of one copy of GATA4 gene and mutation in the other allele, also we suggest that PINX1 gene may contribute for anonychia. Combined karyotype, FISH, array CGH, sequencing analysis, and in silico analysis are crucial in genotype-phenotype correlation.
Keywords
Anonychia; Corpus callosum; GATA4 gene; In silico analysis; Interstitial deletion
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