We report on a patient with Frank-Ter Haar syndrome that is associated with high intraocular pressures. A 21-day-old male patient was referred to our clinic for surgical treatment of congenital glaucoma. On ophthalmic examination, he had buphthalmos, mild corneal edema and high IOP readings in both eyes. The patient underwent uneventful trabeculotomy surgery, bilaterally. Marked bilateral anterior iris insertion was noted during the surgery. Childhood glaucoma may be associated with Frank-Ter Haar syndrome.
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http://dx.doi.org/10.1007/s10792-013-9796-5 | DOI Listing |
Vavilovskii Zhurnal Genet Selektsii
June 2024
Department of Biochemistry and Molecular Medicine, College of Medicine, Taibah University Al Madinah Al Munawara, Saudi Arabia Center for Genetics and Inherited Diseases, Taibah University Al Madinah Al Munawara, Saudi Arabia.
Frank-Ter Haar syndrome (FTHS) is a rare genetic hereditary autosomal recessive disorder characterized by defective malformation of cardiovascular, craniofacial, and skeletal system. Mutations in the SH3PXD2B gene are a common cause in the development of FTHS. We recruited a family with two affected individuals (3-year-old female and 2-month-old male infant) having bilateral clubfoot.
View Article and Find Full Text PDFAdv Exp Med Biol
June 2024
Cardiovascular Genetics, Charité - Universitätsmedizin Berlin, Berlin, Germany.
Biomolecules
April 2024
HUN-REN Research Centre for Natural Sciences, 1117 Budapest, Hungary.
Background: The scaffold protein tyrosine kinase substrate 4 (TKS4) undergoes tyrosine phosphorylation by the epidermal growth factor receptor (EGFR) pathway via Src kinase. The TKS4 deficiency in humans is responsible for the manifestation of a genetic disorder known as Frank-Ter Haar syndrome (FTHS). Based on our earlier investigation, the absence of TKS4 triggers migration, invasion, and epithelial-mesenchymal transition (EMT)-like phenomena while concurrently suppressing cell proliferation in HCT116 colorectal carcinoma cells.
View Article and Find Full Text PDFAm J Med Genet A
August 2023
Dermatology Unit, Humanitas Research Hospital, IRCCS, Rozzano, Milan, Italy.
Heliyon
April 2023
Pediatric Cardiology Department, Mofid Children's Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
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