Deletion of 1 amino acid in indian hedgehog leads to Brachydactylya

American Journal of Medical Genetics, Part A

Volumn 146, Issue 16, 2008, Pages 2152-2154

  Lodder, E M ^a   Hoogeboom, A J M ^a   Coert, J H ^a   De Graaff, E ^a  

^a ERASMUS MEDICAL CENTER   (Netherlands)

Author keywords

Brachydactyly type A1; Congenital malformation; Indian hedgehog; Limb development

Indexed keywords

ARTICLE; BRACHYDACTYLY; BRACHYDACTYLY TYPE A1; CAMPTODACTYLY; GENE; GENE DELETION; GENE MUTATION; HAND MALFORMATION; INDIAN HEDGEHOG GENE; PHYSICAL EXAMINATION; PRIORITY JOURNAL; RADIODIAGNOSIS; SHORT STATURE;

AMINO ACID SEQUENCE; FINGER PHALANGES; HAND DEFORMITIES, CONGENITAL; HEDGEHOG PROTEINS; HUMANS; INFANT; MALE; MODELS, MOLECULAR; PEDIGREE; PHENOTYPE; PROTEIN CONFORMATION; SEQUENCE DELETION;

ERINACEIDAE;

EID: 49449111580     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.32441     Document Type: Article

References (13)

1. Armour CM, Bulman DE, Hunter AG. 2000. Clinical and radiological assessment of a family with mild brachydactyly type A1: The usefulness of metacarpophalangeal profiles. J Med Genet 37:292-296.
2. Arnold K, Bordoli L, Kopp J, Schwede T. 2006. The SWISS-MODEL workspace: A web-based environment for protein structure homology modelling. Bioinformatics 22:195-201.
3. Bell J. 1951. On brachydactyly and symphalangism. Treasury of Human Inheritance. Cambridge, UK: Cambridge University Press. p 1-31.
4. Fitch N. 1979. Classification and identification of inherited brachydactylies. J Med Genet 16:36-44.
5. Gao B, He L. 2004. Answering a century old riddle: Brachydactyly type A1. Cell Res 14:179-187.
6. Gao B, Guo J, She C, Shu A, Yang M, Tan Z, Yang X, Guo S, Feng G, He L. 2001. Mutations in IHH, encoding Indian hedgehog, cause brachydactyly type A-1. Nat Genet 28:386-388.
7. Giordano N, Gennari L, Bruttini M, Mari F, Meloni I, Baldi C, Capoccia S, Geraci S, Merlotti D, Amendola A, Martini G, Nuti R, Gennari C, Renieri A. 2003. Mild brachydactyly type A1 maps to chromosome 2q35-q36 and is caused by a novel IHH mutation in a three generation family. J Med Genet 40:132-135.
8. Hellemans J, Coucke PJ, Giedion A, De Paepe A, Kramer P, Beemer F, Mortier GR. 2003. Homozygous mutations in IHH cause acrocapitofemoral dysplasia, an autosomal recessive disorder with cone-shaped epiphyses in hands and hips. Am J Hum Genet 72:1040-1046.
9. Kirkpatrick TJ, Au KS, Mastrobattista JM, McCready ME, Bulman DE, Northrup H. 2003. Identification of a mutation in the Indian Hedgehog (IHH) gene causing brachydactyly type A1 and evidence for a third locus. J Med Genet 40:42-44.
10. Liu M, Wang X, Cai Z, Tang Z, Cao K, Liang B, Ren X, Liu JY, Wang QK. 2006. A novel heterozygous mutation in the Indian hedgehog gene (IHH) is associated with brachydactyly type A1 in a Chinese family. J Hum Genet 51:727-731.
11. Mastrobattista JM, Dolle P, Blanton SH, Northrup H. 1995. Evaluation of candidate genes for familial brachydactyly. J Med Genet 32:851-854.
12. McCready ME, Sweeney E, Fryer AE, Donnai D, Baig A, Racacho L, Warman ML, Hunter AG, Bulman DE. 2002. A novel mutation in the IHH gene causes brachydactyly type A1: A 95- year-old mystery resolved. Hum Genet 111:368-375.
13. McCready ME, Grimsey A, Styer T, Nikkei SM, Bulman DE. 2005. A century later Farabee has his mutation. Hum Genet 117: 285-287.