Abstract
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.
MeSH terms
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Abnormalities, Multiple / epidemiology
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Abnormalities, Multiple / genetics*
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Chromosome Deletion
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Consanguinity
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Cytogenetic Analysis
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Fetal Growth Retardation / epidemiology
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Fetal Growth Retardation / genetics*
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Genes, Recessive / genetics
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Heterozygote
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Homozygote
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Humans
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Hypocalcemia / epidemiology
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Hypocalcemia / genetics*
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Hypoparathyroidism / epidemiology
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Hypoparathyroidism / genetics*
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In Situ Hybridization, Fluorescence
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Infant, Newborn
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Intellectual Disability / epidemiology
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Intellectual Disability / genetics*
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Kuwait / epidemiology
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Microcephaly / epidemiology
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Microcephaly / genetics*
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Molecular Chaperones / genetics
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Mutation / genetics
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Polymerase Chain Reaction
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Polymorphism, Single-Stranded Conformational
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Syndrome
Substances
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Molecular Chaperones
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TBCE protein, human