Case Study: Patient with 7p14–P21 Deletion Spanning the TWIST Gene and the HOXA Gene Cluster

Main Article Content

Nadia Mebrouk
Amina Barkat

Abstract

Introduction: While several literature reports have been published about patients with microdeletions within chromosome 7p, only a small fraction of those reports is specific to deletions that encompass the TWIST gene and HOXA gene cluster.  The large-span deletions within this cluster result in haploinsufficiency of six genes known to have a role in different autosomal dominant genetic disorders: TWIST1, GSDME (DFNA5), CYCS, HOXA11, HOXA13, and GARS.  Deletion of TWIST1 gene on 7p21 and deletion of HOXA cluster on 7pl5.2 lead to Saethre-Chotzen syndrome and to hand-foot-genital syndrome, respectively.

Objectives: Our patient presented with a phenotype combining Saethre-Chotzen syndrome (SCS) and hand-foot-genital syndrome (HFS), which is similar to previously reported cases with a deletion spanning 7p21– p14.3. The objective of our report is to correlate the clinical observations with the patient’s genetic test result, namely 46,XY,del(7)(p14p21).

Patient and Methods: We describe a patient who had manifestations of SCS and HFU, caused by an interstitial deletion of chromosome 7p21–p14 detected by RHG band.

Results and Conclusion: We therefore confirm previous reports that microdeletions of 7p spanning the TWIST gene and HOXA gene cluster lead to a clinically recognizable ‘haploinsufficiency syndrome’.  All of the features of this patient could be accounted for by combined effect of the deletion of the TWIST and HOXA cluster.

Keywords:
Contiguous gene syndrome, hand-foot-uterus syndrome, HOXA, Saethre-chotzen syndrome, TWIST.

Article Details

How to Cite
Mebrouk, N., & Barkat, A. (2021). Case Study: Patient with 7p14–P21 Deletion Spanning the TWIST Gene and the HOXA Gene Cluster. Asian Journal of Pediatric Research, 5(1), 1-5. https://doi.org/10.9734/ajpr/2021/v5i130162
Section
Case Study

References

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