Author/Authors :
Albaramki, J. Jordan University Hospital - Department of Pediatrics, Jordan , Akl, K. Jordan University Hospital - Department of Pediatrics, Jordan , Al- Muhtaseb, A. Jordan University Hospital - Department of Pediatrics, Jordan , Al-Shboul, M. National Center for Diabetes Endocrinology Genetics, Jordan , Mahmoud, T. National Center for Diabetes Endocrinology Genetics, Jordan , El-Khateeb, M. National Center for Diabetes Endocrinology Genetics, Jordan , Hamamy, H. Geneva University Hospital - Department of Genetic Medicine and Development, Switzerland
Abstract :
Sanjad Sakati syndrome is a rare autosomal recessive disorder that has been described in Arabs. We report 8 patients from 7 Jordanian families, 6 of whom underwent genetic testing and were found to have a 12 bp (155-166 del) deletion within the tubulin-specific chaperone E (TBCE gene) in exon 3 at 1q42-43. All patients had severe growth retardation, distinct phenotypic features and hypoparathyroidism. Parental consanguinity was recorded in all families. This is the first genetically proven case series of Sanjad Sakati syndrome in Jordan.
