Expanding the SPECC1L mutation phenotypic spectrum to include Teebi hypertelorism syndrome. (25th June 2015)

• Record Type: Journal Article
• Authors: Bhoj, Elizabeth J.; Li, Dong; Harr, Margaret H.; Tian, Lifeng; Wang, Tiancheng; Zhao, Yan; Qiu, Haijun; Kim, Cecilia; Hoffman, Jodi D.; Hakonarson, Hakon; Zackai, Elaine H.
• Is Part Of: American journal of medical genetics. Volume 167:Number 11(2015:Nov.)
• Page Start: 2497
• Page End: 2502
• Publication Date: 2015-06-25
• Subjects: Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.37217
• Languages: English
• ISSNs: 1552-4825

Abstract

<abstract abstract-type="main" xml:lang="en"> <title> <x xml:space="preserve">Abstract</x> </title> <sec id="ajmga37217-sec-0001" sec-type="section"> <p>Teebi hypertelorism syndrome is a rare autosomal dominant disorder that has eluded a molecular etiology since first described in 1987. Here we report on two unrelated families with a Teebi hypertelorism‐like syndrome and Teebi hypertelorism phenotype who have missense mutations in <italic>Sperm Antigen With Calponin Homology And Coiled‐Coil Domains</italic> (<italic>SPECC1L</italic>), previously associated with oblique facial clefting and Opitz G/BBB syndrome. The first patient and his affected mother were previously‐reported by Hoffman et al. in this journal as a new syndrome resembling Teebi hypertelorism and Aarskog syndromes in 2007. This patient had hypertelorism, sagittal and coronal craniosynostosis, ptosis, natal teeth, unusual umbilicus, shawl scrotum, small hands, and feet, with grossly normal development. Our second patient had classic Teebi hypertelorism syndrome with hypertelorism and a giant umbilical hernia. Patient one and his affected mother had a c.1260G>C:p.E420D variant and patient two had a de novo c.1198_1203delATACAC:p.I400_H401del variant in <italic>SPECC1L</italic>. We review the phenotypic findings in the previously‐published Teebi hypertelorism syndrome patients, and the Opitz G/BBB patients with <italic>SPECC1L</italic> mutations. In addition we emphasize the findings of aortic root dilation and craniosynostosis in these patients, which should be considered in their management. © 2015 Wiley Periodicals, Inc.</p> </sec> </abstract>