title: 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.
authors.affiliation: Research Unit 01/UR/08-14, Faculty of medicine of Monastir, University of Monastir, Monastir, Tunisia; Department of intensive care and neonatal medicine, CHU Fattouma Bourguiba, Monastir, Tunisia. Electronic address: emnakerkeni@gmail.com.
authors.forename: E
authors.initials: E
authors.lastname: Kerkeni
authors.affiliation: Research Unit 01/UR/08-14, Faculty of medicine of Monastir, University of Monastir, Monastir, Tunisia; Department of intensive care and neonatal medicine, CHU Fattouma Bourguiba, Monastir, Tunisia.
authors.forename: R
authors.initials: R
authors.lastname: Sakka
authors.affiliation: Research Unit 01/UR/08-14, Faculty of medicine of Monastir, University of Monastir, Monastir, Tunisia.
authors.forename: S
authors.initials: S
authors.lastname: Sfar
authors.affiliation: Research Unit 01/UR/08-14, Faculty of medicine of Monastir, University of Monastir, Monastir, Tunisia.
authors.forename: S
authors.initials: S
authors.lastname: Bouaziz
authors.affiliation: Research Unit 01/UR/08-14, Faculty of medicine of Monastir, University of Monastir, Monastir, Tunisia.
authors.forename: N
authors.initials: N
authors.lastname: Ghedira
authors.affiliation: Research Unit 01/UR/08-14, Faculty of medicine of Monastir, University of Monastir, Monastir, Tunisia; Department of intensive care and neonatal medicine, CHU Fattouma Bourguiba, Monastir, Tunisia.
authors.forename: K
authors.initials: K
authors.lastname: Ben Ameur
authors.affiliation: Research Unit 01/UR/08-14, Faculty of medicine of Monastir, University of Monastir, Monastir, Tunisia; Department of intensive care and neonatal medicine, CHU Fattouma Bourguiba, Monastir, Tunisia.
authors.forename: H
authors.initials: H
authors.lastname: Ben Hmida
authors.affiliation: Research Unit 01/UR/08-14, Faculty of medicine of Monastir, University of Monastir, Monastir, Tunisia; Department of intensive care and neonatal medicine, CHU Fattouma Bourguiba, Monastir, Tunisia.
authors.forename: F-Z
authors.initials: FZ
authors.lastname: Chioukh
authors.affiliation: Laboratory of biology, CHU Fattouma Bourguiba, Monastir, Tunisia.
authors.forename: E S
authors.initials: ES
authors.lastname: Ghédira
authors.affiliation: Laboratory of human cytogenetics, molecular genetics and reproductive biology, Farhat Hached University Hospital, Sousse, Tunisia.
authors.forename: M
authors.initials: M
authors.lastname: Gribaa
authors.affiliation: Research Unit 01/UR/08-14, Faculty of medicine of Monastir, University of Monastir, Monastir, Tunisia; Department of intensive care and neonatal medicine, CHU Fattouma Bourguiba, Monastir, Tunisia.
authors.forename: K
authors.initials: K
authors.lastname: Monastiri
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics*; D015415:Biomarkers / Q000378:metabolism; D005091:Exons; D005145:Face / Q000002:abnormalities*; D005260:Female; D006130:Growth Disorders / Q000175:diagnosis / Q000235:genetics*; D006801:Humans; D007011:Hypoparathyroidism / Q000175:diagnosis / Q000235:genetics*; D007231:Infant, Newborn; D007234:Infant, Premature; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics*; D018832:Molecular Chaperones / Q000235:genetics*; D009154:Mutation; D010009:Osteochondrodysplasias / Q000175:diagnosis / Q000235:genetics*; D047928:Premature Birth; D012640:Seizures / Q000175:diagnosis / Q000235:genetics*; D014416:Tunisia
chemical_list: D015415:Biomarkers; D018832:Molecular Chaperones; C469270:TBCE protein, human