RESUMEN
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.
Asunto(s)
Anomalías Múltiples , Trastornos del Crecimiento , Hipoparatiroidismo , Discapacidad Intelectual , Osteocondrodisplasias , Convulsiones , Anomalías Múltiples/diagnóstico , Anomalías Múltiples/genética , Niño , Preescolar , Cromosomas Humanos Par 1/genética , Consanguinidad , Femenino , Pruebas Genéticas , Trastornos del Crecimiento/diagnóstico , Trastornos del Crecimiento/genética , Humanos , Hipoparatiroidismo/diagnóstico , Hipoparatiroidismo/genética , Lactante , Recién Nacido , Discapacidad Intelectual/diagnóstico , Discapacidad Intelectual/genética , Jordania , Masculino , Chaperonas Moleculares/genética , Osteocondrodisplasias/diagnóstico , Osteocondrodisplasias/genética , Fenotipo , Convulsiones/diagnóstico , Convulsiones/genéticaRESUMEN
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