Sanjad-Sakati syndrome/Kenny-Caffey syndrome type 1: a study of 21 cases in Kuwait.
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.
Naguib
K K
KK
Kuwait Medical Genetic Centre, Adan Hospital, Ministry of Health, Kuwait. naguibkk@yahoo.com
Gouda
S A
SA
Elshafey
A
A
Mohammed
F
F
Bastaki
L
L
Azab
A S
AS
Alawadi
S A
SA
D000015:Abnormalities, Multiple / Q000453:epidemiology / Q000235:genetics*; D002872:Chromosome Deletion; D003241:Consanguinity; D020732:Cytogenetic Analysis; D005317:Fetal Growth Retardation / Q000453:epidemiology / Q000235:genetics*; D005808:Genes, Recessive / Q000235:genetics; D006579:Heterozygote; D006720:Homozygote; D006801:Humans; D006996:Hypocalcemia / Q000453:epidemiology / Q000235:genetics*; D007011:Hypoparathyroidism / Q000453:epidemiology / Q000235:genetics*; D017404:In Situ Hybridization, Fluorescence; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000453:epidemiology / Q000235:genetics*; D007730:Kuwait / Q000453:epidemiology; D008831:Microcephaly / Q000453:epidemiology / Q000235:genetics*; D018832:Molecular Chaperones / Q000235:genetics; D009154:Mutation / Q000235:genetics; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D013577:Syndrome
D018832:Molecular Chaperones; C469270:TBCE protein, human