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Sanjad-Sakati syndrome in a Tunisian child.

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.
AuthorsE Kerkeni, R Sakka, S Sfar, S Bouaziz, N Ghedira, K Ben Ameur, H Ben Hmida, F-Z Chioukh, E S Ghédira, M Gribaa, K Monastiri
JournalArchives de pediatrie : organe officiel de la Societe francaise de pediatrie (Arch Pediatr) Vol. 22 Issue 9 Pg. 951-5 (Sep 2015) ISSN: 1769-664X [Electronic] France
PMID26231322 (Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
CopyrightCopyright © 2015 Elsevier Masson SAS. All rights reserved.
Chemical References
  • Biomarkers
  • Molecular Chaperones
  • TBCE protein, human
Topics
  • Abnormalities, Multiple (diagnosis, genetics)
  • Biomarkers (metabolism)
  • Exons
  • Face (abnormalities)
  • Female
  • Growth Disorders (diagnosis, genetics)
  • Humans
  • Hypoparathyroidism (diagnosis, genetics)
  • Infant, Newborn
  • Infant, Premature
  • Intellectual Disability (diagnosis, genetics)
  • Molecular Chaperones (genetics)
  • Mutation
  • Osteochondrodysplasias (diagnosis, genetics)
  • Premature Birth
  • Seizures (diagnosis, genetics)
  • Tunisia

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