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

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.

journal_name

Int J Mol Sci

journal_title

International journal of molecular sciences

authors

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

doi

10.3390/ijms19010082

subject

Has Abstract

pub_date

2017-12-28 00:00:00

issue

1

issn

1422-0067

pii

ijms19010082

journal_volume

19

pub_type

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