Mutation of CANT1 causes desbuquois dysplasia

American Journal of Medical Genetics, Part A

Volumn 152, Issue 5, 2010, Pages 1157-1160

  Faden, Maha ^a   Al Zahrani, Fatema ^b   Arafah, Dia ^c   Alkuraya, Fowzan S ^b,d,e  

^a King Saud Medical Complex ^*  (Saudi Arabia)

^b KING FAISAL SPECIALIST HOSPITAL AND RESEARCH CENTER   (Saudi Arabia)

^c Maternity Hospital   (Saudi Arabia)

^d KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

^e ALFAISAL UNIVERSITY   (Saudi Arabia)

Author keywords

Chondrodysplasia; Congenital glaucoma; Desbuquois dysplasia; Homozygosity scan

Indexed keywords

ARTICLE; AUTOSOMAL RECESSIVE DISORDER; CALCIUM ACTIVATED NUCLEOTIDASE 1 GENE; CASE REPORT; COGNITIVE DEFECT; CONSANGUINEOUS MARRIAGE; DESBUQUOIS DYSPLASIA; DEVELOPMENTAL GENE; GENE MAPPING; GENE MUTATION; GENE SEQUENCE; GENETIC ANALYSIS; GROWTH DISORDER; HOMOZYGOSITY; HUMAN; MALE; NEWBORN; PRIORITY JOURNAL;

ABNORMALITIES, MULTIPLE; BASE SEQUENCE; DNA MUTATIONAL ANALYSIS; FACIES; FEMALE; HAND DEFORMITIES, CONGENITAL; HOMOZYGOTE; HUMANS; INFANT, NEWBORN; MALE; MOLECULAR SEQUENCE DATA; MUTATION; NUCLEOTIDASES; PREGNANCY;

EID: 77951714629     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.33404     Document Type: Article

References (12)

1. Abu Safieh L, Aldahmesh M, Shamseldin H, Hashem M, Shaheen R, Alkuraya H, Hazzaa S, Al-Rajhi A, Alkuraya F. 2009. Clinical and molecular characterization of Bardet-Biedl Syndrome in consanguineous populations: The power of homozygosity mapping. J Med Genet (in press).
2. Aldahmesh MA, Abu Safieh L, Alkuraya H, Al-Rajhi A, Shamseldin H, Hashem M, Alzahrani F, Khan AO, Alqahtani F, Rahbeeni Z, Alowain M, Khalak H, Al-Hazzaa S, Meyer BF, Alkuraya FS. 2009. Molecular characterization of retinitis pigmentosa in Saudi Arabia. Mol Vis 15:2464-2469.
3. al-Gazeli LI, Aziz SA, Bakalinova D. 1996. Desbuquois syndrome in an Arab Bedouin family. Clin Genet 50:255-259.
4. Anderson CE, Bocian ME, Walker AP, Lachman R, Rimoin DL. 1982. A syndrome of short stature, joint laxity and developmental delay. Clin Genet 22:40-46.
5. Beemer FA, Kramer PP, van der Harten HJ, Gerards LJ. 1985. A new syndrome of dwarfism, neonatal death, narrow chest, spondylometaphyseal abnormalities, and advanced bone age. Am J Med Genet 20:555-558.
6. Desbuquois G, Grenier B, Michel J, Rossignol C. 1966. Nanisme chondrodystrophique avec ossification anarchique et polymalformations chez deux soeurs. Arch Franc Pediat 23:573-587.
7. Faivre L, Le Merrer M, Al-Gazali LI, Ausems MG, Bitoun P, Bacq D, Maroteaux P, Munnich A, Cormier-Daire V. 2003. Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3. J Med Genet 40:282-284. (Pubitemid 36506442)
8. Faivre L, Cormier-Daire V, Young I, Bracq H, Finidori G, Padovani JP, Odent S, Lachman R, Munnich A, Maroteaux P, Le Merrer M. 2004a. Long-term outcome in Desbuquois dysplasia: A follow-up in four adult patients. Am J Med Genet Part A 124A:54-59. (Pubitemid 38139816)
9. Faivre L, LeMerrer M, Zerres K, Ben Hariz M, Scheffer D, Young ID, Maroteaux P, Munnich A, Cormier-Daire V. 2004b. Clinical and genetic heterogeneity in Desbuquois dysplasia. Am J Med Genet Part A 128A:29-32. (Pubitemid 38856813)
10. Gillessen-Kaesbach G, Meinecke P, Ausems MG, Nothen M, Albrecht B, Beemer FA, Zerres K. 1995. Desbuquois syndrome: Three further cases and review of the literature. Clin Dysmorphol 4:136-144.
11. Huber C, Oules B, Bertoli M, Chami M, Fradin M, Alanay Y, Al-Gazali LI, Ausems MG, Bitoun P, Cavalcanti DP, Krebs A, Le Merrer M, Mortier G, Shafeghati Y, Superti-Furga A, Robertson SP, Le Goff C, Muda AO, Paterlini-Brechot P, Munnich A, Cormier-Daire V. 2009. Identification of CANT1 mutations in Desbuquois dysplasia. Am J Hum Genet 85:706-710.
12. Shohat M, Lachman R, Gruber HE, Hsia YE, Golbus MS, Witt DR, Bodell A, Bryke CR, Hogge WA, Rimoin DL. 1994. Desbuquois syndrome: Clinical, radiographic, and morphologic characterization. Am J Med Genet 52:9-18. (Pubitemid 24237324)