ORCID Profile
0000-0001-6230-8316
Current Organisation
University of Iowa
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Publisher: Springer Science and Business Media LLC
Date: 05-11-2013
DOI: 10.1038/MP.2013.143
Publisher: Hindawi Limited
Date: 06-12-2018
DOI: 10.1002/HUMU.23694
Publisher: Public Library of Science (PLoS)
Date: 12-03-2015
Publisher: Springer Science and Business Media LLC
Date: 28-05-2013
DOI: 10.1038/MP.2013.71
Publisher: MDPI AG
Date: 14-09-2022
Abstract: Ulnar-mammary syndrome (UMS) is a rare, autosomal dominant disorder characterized by anomalies affecting the limbs, apocrine glands, dentition, and genital development. This syndrome is caused by haploinsufficiency in the T-Box3 gene (TBX3), with considerable variability in the clinical phenotype being observed even within families. We describe a one-year-old female with unilateral, postaxial polydactyly, and bilateral fifth fingernail duplication. Next-generation sequencing revealed a novel, likely pathogenic, variant predicted to affect the canonical splice site in intron 3 of the TBX3 gene (c.804 + 1G A, IVS3 + 1G A). This variant was inherited from the proband’s father who was also diagnosed with UMS with the additional clinical finding of congenital, sagittal craniosynostosis. Subsequent whole genome analysis in the proband’s father detected a variant in the EFNA4 gene (c.178C T, p.His60Tyr), which has only been reported to be associated with sagittal craniosynostosis in one patient prior to this report but reported in other cranial suture synostosis. The findings in this family extend the genotypic spectrum of UMS, as well as the phenotypic spectrum of EFNA4-related craniosynostosis.
Publisher: Elsevier BV
Date: 11-2008
No related grants have been discovered for HATEM EL-SHANTI.