The Bedouin mutation c.155-166del of the TBCE gene in a patient with Sanjad-Sakati syndrome of Moroccan origin.
Sanjad-Sakati syndrome (SSS) or hypoparathyroidism-retardation-dysmorphism syndrome (HDR) is a rare autosomal recessive disorder. It is characterized by the association of congenital hypothyroidism, growth retardation, psychomotor retardation, epilepsy, dysmorphic features (microcephaly, facial, eye, and dental anomalies), and abnormalities of the extremities. The prevalence of SSS is unknown. Reported patients are were almost exclusively from the Arabian Peninsula. They are were all homozygous for the ancestral mutation c.155- 166del of the TBCE gene, also known as "the Bedouin mutation." We report on the first clinical and molecular description of a Moroccan patient with Sanjad-Sakati syndrome. He is was a carrier for the Bedouin mutation, not surprising, knowing that part of the Moroccan population has Arabian origin. This diagnosis allowed us to provide an appropriate management to the patient, to make a genetic counseling to his family, and to enrich genetic data on the Moroccan population.
Ilham Ratbi, Département de Génétique Médicale,, Institut National d'Hygiène, 27, Avenue Ibn Batouta,, B.P. 769 Rabat - Morocco, T: (+212) 613 58 67 97, F: (+212) 537 77 20 67, i.ratbi@um5s.net.ma.
Ilham
I
Ratbi
Jaber
J
Lyahyai
Meryem
M
Kabiri
Meryem
M
Banouar
Maria
M
Zerkaoui
Amina
A
Barkat
Abdelaziz
A
Sefiania
D000015:Abnormalities, Multiple / Q000235:genetics* / Q000503:physiopathology; D018912:Arabs / Q000235:genetics*; D005260:Female; D006130:Growth Disorders / Q000235:genetics* / Q000503:physiopathology; D006801:Humans; D007011:Hypoparathyroidism / Q000235:genetics* / Q000503:physiopathology; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000235:genetics* / Q000503:physiopathology; D018832:Molecular Chaperones / Q000235:genetics*; D009018:Morocco; D009154:Mutation; D010009:Osteochondrodysplasias / Q000235:genetics* / Q000503:physiopathology; D012640:Seizures / Q000235:genetics* / Q000503:physiopathology
D018832:Molecular Chaperones; C469270:TBCE protein, human