RESUMEN
We studied 21 patients with Sanjad-Sakati syndrome (SSS) from 16 families. Parental consanguinity was recorded in 2 families (12.5%). All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism. Medullary stenosis was detected in 2 patients. Cytogenetic and fluorescent in situ hybridization studies were normal. All affected persons had homozygous deletion of 12 bp (155-166del) in exon 3 of the TBCE gene. All of the parents were heterozygous carriers of this mutation. The high frequency of SSS and low frequency of consanguineous marriages in this study may reflect a high rate of heterozygous carriers.
Asunto(s)
Anomalías Múltiples/genética , Retardo del Crecimiento Fetal/genética , Hipocalcemia/genética , Hipoparatiroidismo/genética , Discapacidad Intelectual/genética , Microcefalia/genética , Anomalías Múltiples/epidemiología , Deleción Cromosómica , Consanguinidad , Análisis Citogenético , Retardo del Crecimiento Fetal/epidemiología , Genes Recesivos/genética , Heterocigoto , Homocigoto , Humanos , Hipocalcemia/epidemiología , Hipoparatiroidismo/epidemiología , Hibridación Fluorescente in Situ , Recién Nacido , Discapacidad Intelectual/epidemiología , Kuwait/epidemiología , Microcefalia/epidemiología , Chaperonas Moleculares/genética , Mutación/genética , Reacción en Cadena de la Polimerasa , Polimorfismo Conformacional Retorcido-Simple , SíndromeRESUMEN
We studied 21 patients with Sanjad-Sakati syndrome [SSS] from 16 families. Parental consanguinity was recorded in 2 families [12.5%]. All patients had severe intrauterine growth retardation, short stature, small hands and feet, blue sclera, deep-set eyes, microcephaly, persistent hypocalcaemia and hypoparathyroidism. Medullary stenosis was detected in 2 patients. Cytogenetic and fluorescent in situ hybridization studies were normal. All affected persons had homozygous deletion of 12 bp [155-166del] in exon 3 of the TBCE gene. All of the parents were heterozygous carriers of this mutation. The high frequency of SSS and low frequency of consanguineous marriages in this study may reflect a high rate of heterozygous carriers