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

Eastern Mediterranean Health Journal

Volumn 15, Issue 2, 2009, Pages 345-352

  Naguib, K K ^a   Gouda, S A ^a   Elshafey, A ^a   Mohammed, F ^b   Bastaki, L ^a   Azab, A S ^a   Alawadi, S A ^a  

^a MINISTRY OF HEALTH   (Kuwait)

^b KUWAIT UNIVERSITY   (Kuwait)

Author keywords

[No Author keywords available]

Indexed keywords

GENE PRODUCT; PROTEIN TBCE; UNCLASSIFIED DRUG; CHAPERONE; TBCE PROTEIN, HUMAN;

ADULT; ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CLINICAL ARTICLE; CONGENITAL MALFORMATION; CONSANGUINITY; CYTOGENETICS; EXON; FAMILY STUDY; FEMALE; FOOT MALFORMATION; GENE DELETION; GENE MUTATION; GENETIC ANALYSIS; GROWTH RETARDATION; HAND MALFORMATION; HETEROZYGOSITY; HOMOZYGOSITY; HUMAN; HYPOCALCEMIA; HYPOPARATHYROIDISM; INTRAUTERINE GROWTH RETARDATION; KENNY CAFFEY SYNDROME; KUWAIT; MALE; MENTAL DEFICIENCY; MICROCEPHALY; SANJAD SAKATI SYNDROME; SCLERA; SHORT STATURE; CHROMOSOME ANALYSIS; CHROMOSOME DELETION; FLUORESCENCE IN SITU HYBRIDIZATION; GENETICS; HETEROZYGOTE; HOMOZYGOTE; MULTIPLE MALFORMATION SYNDROME; MUTATION; NEWBORN; POLYMERASE CHAIN REACTION; RECESSIVE GENE; SINGLE STRAND CONFORMATION POLYMORPHISM; SYNDROME;

ABNORMALITIES, MULTIPLE; CHROMOSOME DELETION; CONSANGUINITY; CYTOGENETIC ANALYSIS; FETAL GROWTH RETARDATION; GENES, RECESSIVE; HETEROZYGOTE; HOMOZYGOTE; HUMANS; HYPOCALCEMIA; HYPOPARATHYROIDISM; IN SITU HYBRIDIZATION, FLUORESCENCE; INFANT, NEWBORN; KUWAIT; MENTAL RETARDATION; MICROCEPHALY; MOLECULAR CHAPERONES; MUTATION; POLYMERASE CHAIN REACTION; POLYMORPHISM, SINGLE-STRANDED CONFORMATIONAL; SYNDROME;

EID: 68249141996     PISSN: 10203397     EISSN: None     Source Type: Journal    
DOI: 10.26719/2009.15.2.345     Document Type: Article

References (22)

1. Sanjad S, Sakati N, Abu-Osba Y. Congenital hypoparathyroidism with dysmorphic features: a new syndrome. Pediatric research, 1988, 23:71A.
2. Sanjad SA et al. A new syndrome of congenital hypoparathyroidism, seizure, growth failure and dysmorphic features. Archives of disease in childhood, 1991, 66(11):193-6.
3. Al-Malik MI. The dentofacial features of Sanjad-Sakati syndrome: a case report. International journal of paediatric dentistry, 2004, 14:136-40.
4. Kelly TE et al. Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism syndrome (OMIM 241410) locus to chromosome 1q42-43. Journal of medical genetics, 2000, 37(1):63-4.
5. Parvari R et al. Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome. Nature genetics, 2002, 32:448-52.
6. Franceschini P et al. Kenny-Caffey syndrome in two sibs born to consanguineous parents: evidence for an autosomal recessive variant. American journal of medical genetics, 1992, 42:112-6.
7. Sabry MA et al. Kenny-Caffey syndrome is part of the CATCH22 haploinsufficiency cluster. Journal of medical genetics, 1998, 35:31-6.
8. Sabry MA, Zaki M, Shaltout A. Genotypic/phenotypic heterogeneity of Kenny-Caffey syndrome. Journal of medical genetics, 1998, 35:1054-5.
9. Diaz GA, Khan KTS, Gelb BD. The autosomal recessive Kenny-Caffey syndrome locus maps to chromosome 1q42-q43. Genomics, 1998, 54:13-8.
10. OMIM Online Mendelian inheritance in man. Baltimore, Johns Hopkins University (http://www.ncbi.nlm.nih.gov/omim/, accessed 13 April 2009).
11. Khan KTS et al. Kenny-Caffey syndrome in six Bedouin sibships: autosomal recessive inheritance is confirmed. American journal of medical genetics, 1997, 69(2):126-32.
12. Diaz GA et al. Sanjad-Sakati and autosomal recessive Kenny-Caffey syndromes are allelic: evidence for an ancestral founder mutation and locus refinement. American journal of medical genetics, 1999, 85:48-52.
13. Tian G et al. Pathway leading to correctly folded beta-tubulin. Cell, 1996, 86:287-96.
14. Hellani A et al. Pregnancy after preimplantation genetic diagnosis for Sanjad-Sakati syndrome. Prenatal diagnosis, 2004, 24:302-6.
15. Hellani A et al. Pregnancy after preimplantation genetic diagnosis for ataxia telangiectasia. Molecular human reproduction, 2002, 8(8):785-8.
16. Marsden D, Nyhan WL, Sakati NO. Syndrome of hypoparathyroidism, growth hormone deficiency, and multiple minor anomalies. American journal of medical genetics, 1994, 52:334-8.
17. Parvari R et al. Homozygosity and linkage-disequilibrium mapping of the syndrome of congenital hypoparathyroidism, growth and mental retardation, and dysmorphism to a 1-cM interval on chromosome 1q42-43. American journal of human genetics, 1998, 63:163-9.
18. Richardson RJ, Kirk JMW. Short stature, mental retardation and hypoparathyroidism: a new syndrome. Archives of disease in childhood, 1990, 65(10):1113-7.
19. Al Tawil K et al. Hypoparathyroidism-retardation-dysmorphism (HRD) syndrome in triplets. American journal of medical genetics, 2005, 135:200-1.
20. Teebi AS. Hypoparathyroidism, retarded growth and development, and dysmorphism or Sanjad-Sakati syndrome: an Arab disease reminiscent of Kenny-Caffey syndrome. Journal of medical genetics, 2000, 37:145.
21. Al-Awadi S et al. Consanguinity among the Kuwaiti population. Clinical geneticsm, 1985, 27:483-6.
22. Sabry MA et al. Kenny-Caffey syndrome: an Arab variant? Clinical genetics, 1999, 55:44-9.