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

Document Type : Original Article

Authors

1 National Research Centre

2 NRC

3 Molecular Genetics and Enzymology Department, Human Genetics and Genome Research Institute, National Research Centre, Giza, EGYPT

4 El 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.

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