FKBP10 and bruck syndrome: Phenotypic heterogeneity or call for reclassification?

American Journal of Human Genetics

Volumn 87, Issue 2, 2010, Pages 306-307

  Shaheen, Ranad ^a   Al Owain, Mohammed ^a,b   Sakati, Nadia ^a   Alzayed, Zayed S ^a   Alkuraya, Fowzan S ^a,b,c  

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

^b ALFAISAL UNIVERSITY   (Saudi Arabia)

^c KING KHALID UNIVERSITY HOSPITAL   (Saudi Arabia)

Author keywords

[No Author keywords available]

Indexed keywords

BISPHOSPHONIC ACID DERIVATIVE; PROTEIN; PROTEIN FKBP 10; UNCLASSIFIED DRUG;

ARTHROGRYPOSIS; AUTOSOMAL RECESSIVE DISORDER; CASE REPORT; FAMILY HISTORY; FEMUR FRACTURE; GENE DELETION; GENE INSERTION; GENE LOCUS; GENE MUTATION; GENE SEQUENCE; GENETIC CODE; GENETIC HETEROGENEITY; GENOTYPE; HOMOZYGOSITY; HUMAN; JOINT CONTRACTURE; JOINT MALFORMATION; LETTER; MALE; NEWBORN; OSTEOGENESIS IMPERFECTA; OSTEOPENIA; PHENOTYPE; PRIORITY JOURNAL; PROTEIN DEPLETION; PROTEIN DOMAIN; SEQUENCE ANALYSIS;

ABNORMALITIES, MULTIPLE; ADOLESCENT; COLLAGEN TYPE I; HOMOZYGOTE; HUMANS; INFANT; INFANT, NEWBORN; MALE; MUTATION; PHENOTYPE; SIBLINGS; SYNDROME; TACROLIMUS BINDING PROTEINS;

EID: 77955567275     PISSN: 00029297     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.ajhg.2010.05.020     Document Type: Letter

References (9)

1. Y. Alanay, H. Avaygan, N. Camacho, G.E. Utine, K. Boduroglu, D. Aktas, M. Alikasifoglu, E. Tuncbilek, D. Orhan, and F.T. Bakar Mutations in the gene encoding the RER protein FKBP65 cause autosomal-recessive osteogenesis imperfecta Am. J. Hum. Genet. 86 2010 551 559
2. D. Viljoen, G. Versfeld, and P. Beighton Osteogenesis imperfecta with congenital joint contractures (Bruck syndrome) Clin. Genet. 36 1989 122 126
3. R. Pollitt, R. McMahon, J. Nunn, R. Bamford, A. Afifi, N. Bishop, and A. Dalton Mutation analysis of COL1A1 and COL1A2 in patients diagnosed with osteogenesis imperfecta type I-IV Hum. Mutat. 27 2006 716
4. A.M. Alazami, R. Shaheen, F. Alzahrani, K. Snape, A. Saggar, B. Brinkmann, P. Bavi, L.I. Al-Gazali, and F.S. Alkuraya FREM1 mutations cause bifid nose, renal agenesis, and anorectal malformations syndrome Am. J. Hum. Genet. 85 2009 414 418
5. F.S. Alkuraya Homozygosity mapping: One more tool in the clinical geneticist's toolbox Genet. Med. 12 2010 236 239
6. A.J. van der Slot, A.M. Zuurmond, A.F. Bardoel, C. Wijmenga, H.E. Pruijs, D.O. Sillence, J. Brinckmann, D.J. Abraham, C.M. Black, and N. Verzijl Identification of PLOD2 as telopeptide lysyl hydroxylase, an important enzyme in fibrosis J. Biol. Chem. 278 2003 40967 40972
7. R.A. Bank, S.P. Robins, C. Wijmenga, L.J. Breslau-Siderius, A.F. Bardoel, H.A. van der Sluijs, H.E. Pruijs, and J.M. TeKoppele Defective collagen crosslinking in bone, but not in ligament or cartilage, in Bruck syndrome: Indications for a bone-specific telopeptide lysyl hydroxylase on chromosome 17 Proc. Natl. Acad. Sci. USA 96 1999 1054 1058
8. C.E. Patterson, T. Schaub, E.J. Coleman, and E.C. Davis Developmental regulation of FKBP65. An ER-localized extracellular matrix binding-protein Mol. Biol. Cell 11 2000 3925 3935
9. N. Andiran, A. Alikasifoglu, Y. Alanay, and N. Yordam Cyclic pamidronate treatment in Bruck syndrome: proposal of a new modality of treatment Pediatr. Int. 50 2008 836 838