Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait

East Mediterr Health J. 2009 Mar-Apr;15(2):345-52.

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

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

Substances

  • Molecular Chaperones
  • TBCE protein, human