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Non-syndromic preaxial polydactyly

MedGen UID:
1842226
•Concept ID:
C5681229
•
Congenital Abnormality
Orphanet: ORPHA498464

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVNon-syndromic preaxial polydactyly

Recent clinical studies

Etiology

Polydactyly: phenotypes, genetics and classification.
Malik S
Clin Genet 2014 Mar;85(3):203-12. Epub 2013 Oct 18 doi: 10.1111/cge.12276. PMID: 24020795

Diagnosis

Whole-exome sequencing revealed a nonsense mutation in STKLD1 causing non-syndromic pre-axial polydactyly type A affecting only upper limb.
Umair M, Bilal M, Ali RH, Alhaddad B, Ahmad F, Abdullah, Haack TB, Alfadhel M, Ansar M, Meitinger T, Ahmad W
Clin Genet 2019 Aug;96(2):134-139. Epub 2019 Apr 22 doi: 10.1111/cge.13547. PMID: 30945277
Exome sequencing reveals a novel nonsense mutation of GLI3 in a Chinese family with 'non-syndromic' pre-axial polydactyly.
Xiang Y, Wang Z, Bian J, Xu Y, Fu Q
J Hum Genet 2016 Oct;61(10):907-910. Epub 2016 Jun 16 doi: 10.1038/jhg.2016.76. PMID: 27305983
Advances in the molecular genetics of non-syndromic polydactyly.
Deng H, Tan T, Yuan L
Expert Rev Mol Med 2015 Oct 30;17:e18. doi: 10.1017/erm.2015.18. PMID: 26515020
Polydactyly: phenotypes, genetics and classification.
Malik S
Clin Genet 2014 Mar;85(3):203-12. Epub 2013 Oct 18 doi: 10.1111/cge.12276. PMID: 24020795

Clinical prediction guides

A novel frame-shift mutation of GLI3 causes non-syndromic and complex digital anomalies in a Chinese family.
Cheng F, Ke X, Lv M, Zhang F, Li C, Zhang X, Zhang Y, Zhao X, Wang X, Liu B, Han J, Li Y, Zeng C, Li S
Clin Chim Acta 2011 May 12;412(11-12):1012-7. Epub 2011 Feb 12 doi: 10.1016/j.cca.2011.02.007. PMID: 21320477
Clinical and genetic studies on 12 preaxial polydactyly families and refinement of the localisation of the gene responsible to a 1.9 cM region on chromosome 7q36.
Zguricas J, Heus H, Morales-Peralta E, Breedveld G, Kuyt B, Mumcu EF, Bakker W, Akarsu N, Kay SP, Hovius SE, Heredero-Baute L, Oostra BA, Heutink P
J Med Genet 1999 Jan;36(1):32-40. PMID: 9950363Free PMC Article

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