Sanjad Sakati syndrome: a case series from Jordan

East Mediterr Health J. 2012 May;18(5):527-31. doi: 10.26719/2012.18.5.527.

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.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple* / diagnosis
  • Abnormalities, Multiple* / genetics
  • Child
  • Child, Preschool
  • Chromosomes, Human, Pair 1 / genetics
  • Consanguinity
  • Female
  • Genetic Testing
  • Growth Disorders* / diagnosis
  • Growth Disorders* / genetics
  • Humans
  • Hypoparathyroidism* / diagnosis
  • Hypoparathyroidism* / genetics
  • Infant
  • Infant, Newborn
  • Intellectual Disability* / diagnosis
  • Intellectual Disability* / genetics
  • Jordanien
  • Male
  • Molecular Chaperones / genetics
  • Osteochondrodysplasias* / diagnosis
  • Osteochondrodysplasias* / genetics
  • Phenotype
  • Seizures* / diagnosis
  • Seizures* / genetics

Substances

  • Molecular Chaperones
  • TBCE protein, human

Supplementary concepts

  • Hypoparathyroidism-retardation-dysmorphism syndrome