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Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature
- Source :
- International Journal of Molecular Sciences, International Journal of Molecular Sciences, Vol 19, Iss 1, p 82 (2017)
- Publication Year :
- 2017
- Publisher :
- MDPI, 2017.
-
Abstract
- Kabuki syndrome (KS) is a rare disorder characterized by multiple congenital anomalies and variable intellectual disability caused by mutations in KMT2D/MLL2 and KDM6A/UTX, two interacting chromatin modifier responsible respectively for 56–75% and 5–8% of the cases. To date, three KS patients with mosaic KMT2D deletions in blood lymphocytes have been described. We report on three additional subjects displaying KMT2D gene mosaics including one in which a single nucleotide change results in a new frameshift mutation (p.L1199HfsX7), and two with already-known nonsense mutations (p.R4484X and p.R5021X). Consistent with previously published cases, mosaic KMT2D mutations may result in mild KS facial dysmorphisms and clinical and neurobehavioral features, suggesting that these characteristics could represent the handles for genetic testing of individuals with slight KS-like traits.
- Subjects :
- 0301 basic medicine
KMT2D gene
Nonsense mutation
Case Report
KMT2D/MLL2
Biology
Catalysis
Frameshift mutation
Inorganic Chemistry
lcsh:Chemistry
03 medical and health sciences
Intellectual disability
medicine
Physical and Theoretical Chemistry
Molecular Biology
lcsh:QH301-705.5
Spectroscopy
Genetic testing
Genetics
medicine.diagnostic_test
Organic Chemistry
Chromatin modifier
General Medicine
medicine.disease
Computer Science Applications
developmental delay
kabuki syndrome
030104 developmental biology
mosaicism
lcsh:Biology (General)
lcsh:QD1-999
Kabuki syndrome
Subjects
Details
- Language :
- English
- ISSN :
- 14220067
- Volume :
- 19
- Issue :
- 1
- Database :
- OpenAIRE
- Journal :
- International Journal of Molecular Sciences
- Accession number :
- edsair.doi.dedup.....1c400ba4601bf525454988a8b116788b