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Clinical and Neurobehavioral Features of Three Novel Kabuki Syndrome Patients with Mosaic KMT2D Mutations and a Review of Literature

Authors :
Dario Cocciadiferro
Natascia Malerba
Alessandra Vancini
Bartolomeo Augello
Giuseppe Merla
Francesca Romana Lepri
Valentina Pes
Bruno Dallapiccola
Antonio Novelli
Paolo Alfieri
Stefano Sotgiu
Renzo Gherardi
Cristina Caciolo
Iolanda Adipietro
Maria Cristina Digilio
Gabriella Maria Squeo
Lepri, Fr
Cocciadiferro, D
Augello, B
Alfieri, P
Pes, V
Vancini, A
Caciolo, C
Squeo, Gm
Malerba, N
Adipietro, I
Novelli, A
Sotgiu, S
Gherardi, R
Digilio, Mc
Dallapiccola, B
Merla, G
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.

Details

Language :
English
ISSN :
14220067
Volume :
19
Issue :
1
Database :
OpenAIRE
Journal :
International Journal of Molecular Sciences
Accession number :
edsair.doi.dedup.....1c400ba4601bf525454988a8b116788b