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MLL2mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study
- Source :
- Clinical Genetics. 84:539-545
- Publication Year :
- 2013
- Publisher :
- Wiley, 2013.
-
Abstract
- Recently, pathogenic variants in the MLL2 gene were identified as the most common cause of Kabuki (Niikawa-Kuroki) syndrome (MIM#147920). To further elucidate the genotype-phenotype correlation, we studied a large cohort of 86 clinically defined patients with Kabuki syndrome (KS) for mutations in MLL2. All patients were assessed using a standardized phenotype list and all were scored using a newly developed clinical score list for KS (MLL2-Kabuki score 0-10). Sequencing of the full coding region and intron-exon boundaries of MLL2 identified a total of 45 likely pathogenic mutations (52%): 31 nonsense, 10 missense and four splice-site mutations, 34 of which were novel. In five additional patients, novel, i.e. non-dbSNP132 variants of clinically unknown relevance, were identified. Patients with likely pathogenic nonsense or missense MLL2 mutations were usually more severely affected (median 'MLL2-Kabuki score' of 6) as compared to the patients without MLL2 mutations (median 'MLL2-Kabuki score' of 5), a significant difference (p
- Subjects :
- medicine.medical_specialty
media_common.quotation_subject
Nonsense
Bioinformatics
medicine.disease_cause
Gastroenterology
03 medical and health sciences
0302 clinical medicine
Internal medicine
Genetics
medicine
Coding region
Missense mutation
Gene
Genetics (clinical)
030304 developmental biology
media_common
0303 health sciences
Mutation
Sotos syndrome
business.industry
medicine.disease
Phenotype
business
Kabuki syndrome
030217 neurology & neurosurgery
Subjects
Details
- ISSN :
- 00099163
- Volume :
- 84
- Database :
- OpenAIRE
- Journal :
- Clinical Genetics
- Accession number :
- edsair.doi...........39eaa9d360ba5272c5f971c1f5c02e9a