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How genetically heterogeneous is Kabuki syndrome: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum

Abstract:

MLL2 mutations are detected in 55 to 80% of patients with Kabuki syndrome (KS). In 20 to 45% patients with KS, the genetic basis remains unknown, suggesting possible genetic heterogeneity. Here, we present the largest yet reported cohort of 116 patients with KS. We identified MLL2 variants in 74 patients, of which 47 are novel and a majority are truncating. We show that pathogenic missense mutations were commonly located in exon 48. We undertook a systematic facial KS morphology study of pati...

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Publisher copy:
10.1038/ejhg.2011.220

Authors


Veeramachaneni, R More by this author
Reardon, W More by this author
Bunstone, S More by this author
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Journal:
European Journal of Human Genetics
Volume:
20
Issue:
4
Pages:
381-388
Publication date:
2012-04-05
DOI:
EISSN:
1476-5438
ISSN:
1018-4813
URN:
uuid:be6da7d0-33cb-4765-aaa0-a0968f76ed63
Source identifiers:
321410
Local pid:
pubs:321410

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