RESUMO
Sanjad Sakati syndrome is a rare autosomal recessive disorder that has been described in Arabs. We report 8 patients from 7 Jordanian families, 6 of whom underwent genetic testing and were found to have a 12 bp (155-166 del) deletion within the tubulin-specific chaperone E (TBCE gene) in exon 3 at 1q42-43. All patients had severe growth retardation, distinct phenotypic features and hypoparathyroidism. Parental consanguinity was recorded in all families. This is the first genetically proven case series of Sanjad Sakati syndrome in Jordan.
Assuntos
Anormalidades Múltiplas , Transtornos do Crescimento , Hipoparatireoidismo , Deficiência Intelectual , Osteocondrodisplasias , Convulsões , Anormalidades Múltiplas/diagnóstico , Anormalidades Múltiplas/genética , Criança , Pré-Escolar , Cromossomos Humanos Par 1/genética , Consanguinidade , Feminino , Testes Genéticos , Transtornos do Crescimento/diagnóstico , Transtornos do Crescimento/genética , Humanos , Hipoparatireoidismo/diagnóstico , Hipoparatireoidismo/genética , Lactente , Recém-Nascido , Deficiência Intelectual/diagnóstico , Deficiência Intelectual/genética , Jordânia , Masculino , Chaperonas Moleculares/genética , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Fenótipo , Convulsões/diagnóstico , Convulsões/genéticaRESUMO
Sanjad Sakati syndrome is a rare autosomal recessive disorder that has been described in Arabs. We report 8 patients from 7 Jordanian families, 6 of whom underwent genetic testing and were found to have a 12 bp [155-166 del] deletion within the tubulin-specific chaperone E [TBCE gene] in exon 3 at lq42-43. All patients had severe growth retardation, distinct phenotypic features and hypoparathyroidism. Parental consanguinity was recorded in all families. This is the first genetically proven case series of Sanjad Sakati syndrome in Jordan
