Sanjad-Sakati syndrome in a Tunisian child

Arch Pediatr. 2015 Sep;22(9):951-5. doi: 10.1016/j.arcped.2015.06.003. Epub 2015 Jul 29.

Abstract

Sanjad-Sakati syndrome (SSS) (OMIM 241410) is a rare autosomal recessive disorder characterized by congenital hypoparathyroidism with growth and mental retardation associated with seizures and a characteristic physiognomy. SSS molecular pathology has been shown to be due to mutations in the TBCE gene on chromosome 1q42-q43. All affected patients of Arab origin are homozygous for a 12-bp (155-166del) deletion in exon 3 of this gene. We report on a Tunisian child with SSS who was homozygous for the 155-166del mutation. Our findings provide additional support of the common (155-166del) deletion founder effect in exon 3 of the TBCE gene in Arab patients. It is very likely that this mutation originated in the Middle East and was introduced in Tunisia by the Banu Hilal invaders.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / diagnosis
  • Abnormalities, Multiple / genetics*
  • Biomarkers / metabolism
  • Exons*
  • Face / abnormalities*
  • Female
  • Growth Disorders / diagnosis
  • Growth Disorders / genetics*
  • Humans
  • Hypoparathyroidism / diagnosis
  • Hypoparathyroidism / genetics*
  • Infant, Newborn
  • Infant, Premature*
  • Intellectual Disability / diagnosis
  • Intellectual Disability / genetics*
  • Molecular Chaperones / genetics*
  • Mutation*
  • Osteochondrodysplasias / diagnosis
  • Osteochondrodysplasias / genetics*
  • Premature Birth
  • Seizures / diagnosis
  • Seizures / genetics*
  • Tunisia

Substances

  • Biomarkers
  • Molecular Chaperones
  • TBCE protein, human

Supplementary concepts

  • Hypoparathyroidism-retardation-dysmorphism syndrome