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.
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Authors | E 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 |
Journal | Archives 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 |
PMID | 26231322
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
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Copyright | Copyright © 2015 Elsevier Masson SAS. All rights reserved. |
Chemical References |
- Biomarkers
- Molecular Chaperones
- TBCE protein, human
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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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