The University of Southampton
University of Southampton Institutional Repository

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome
MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome
Kabuki syndrome (KS) is a rare multi-system disorder that can result in a variety of congenital malformations, typical dysmorphism and variable learning disability. It is caused by MLL2 point mutations in the majority of the cases and, rarely, by deletions involving KDM6A. Nearly one-third of cases remain unsolved. Here, we expand the known genetic basis of KS by presenting five typical patients with the condition, all of whom have novel MLL2 mutation types - two patients with mosaic small deletions, one with a mosaic whole-gene deletion, one with a multi-exon deletion and one with an intragenic multi-exon duplication. We recommend MLL2 dosage studies for all patients with typical KS, where traditional Sanger sequencing fails to identify mutations. The prevalence of such MLL2 mutations in KS may be comparable to deletions involving KDM6A. These findings may be helpful in understanding the mutational mechanism of MLL2 and the disease mechanism of KS.
0009-9163
467-471
Banka, Siddharth
26126fbc-e373-4dfa-959f-faa79129828b
Howard, Emma
2b32973c-1153-478d-912f-71c3583a1431
Bunstone, Sancha
b64bb449-1cc2-4599-9199-4126f73cefa9
Chandler, Kate E.
a942b1b6-add4-46f8-b211-570413a384bc
Kerr, Bronwyn
7c6437d3-86bf-4216-aa7f-303e691aad49
Lachlan, Katherine
175ce889-ede8-477e-93eb-afefc1af5dda
McKee, Shane
697d9bc8-c8dd-43dd-b829-1f4bcf0c2c82
Mehta, Sarju G.
485e0fbf-763e-46d7-807e-2e43f2b6e183
Tavares, Ana Lisa Taylor
730fb640-a84a-451f-815e-a3d7155e4938
Tolmie, John
0fdedc0e-ba5b-4f22-a2a6-4cc69ee8890d
Donnai, Dian
7758b3a7-e2ea-4330-8c72-fdf6d4e75eea
Banka, Siddharth
26126fbc-e373-4dfa-959f-faa79129828b
Howard, Emma
2b32973c-1153-478d-912f-71c3583a1431
Bunstone, Sancha
b64bb449-1cc2-4599-9199-4126f73cefa9
Chandler, Kate E.
a942b1b6-add4-46f8-b211-570413a384bc
Kerr, Bronwyn
7c6437d3-86bf-4216-aa7f-303e691aad49
Lachlan, Katherine
175ce889-ede8-477e-93eb-afefc1af5dda
McKee, Shane
697d9bc8-c8dd-43dd-b829-1f4bcf0c2c82
Mehta, Sarju G.
485e0fbf-763e-46d7-807e-2e43f2b6e183
Tavares, Ana Lisa Taylor
730fb640-a84a-451f-815e-a3d7155e4938
Tolmie, John
0fdedc0e-ba5b-4f22-a2a6-4cc69ee8890d
Donnai, Dian
7758b3a7-e2ea-4330-8c72-fdf6d4e75eea

Banka, Siddharth, Howard, Emma, Bunstone, Sancha, Chandler, Kate E., Kerr, Bronwyn, Lachlan, Katherine, McKee, Shane, Mehta, Sarju G., Tavares, Ana Lisa Taylor, Tolmie, John and Donnai, Dian (2013) MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome. Clinical Genetics, 83 (5), 467-471. (doi:10.1111/j.1399-0004.2012.01955.x).

Record type: Article

Abstract

Kabuki syndrome (KS) is a rare multi-system disorder that can result in a variety of congenital malformations, typical dysmorphism and variable learning disability. It is caused by MLL2 point mutations in the majority of the cases and, rarely, by deletions involving KDM6A. Nearly one-third of cases remain unsolved. Here, we expand the known genetic basis of KS by presenting five typical patients with the condition, all of whom have novel MLL2 mutation types - two patients with mosaic small deletions, one with a mosaic whole-gene deletion, one with a multi-exon deletion and one with an intragenic multi-exon duplication. We recommend MLL2 dosage studies for all patients with typical KS, where traditional Sanger sequencing fails to identify mutations. The prevalence of such MLL2 mutations in KS may be comparable to deletions involving KDM6A. These findings may be helpful in understanding the mutational mechanism of MLL2 and the disease mechanism of KS.

This record has no associated files available for download.

More information

Accepted/In Press date: 17 August 2012
Published date: March 2013
Organisations: Human Development & Health

Identifiers

Local EPrints ID: 342306
URI: http://eprints.soton.ac.uk/id/eprint/342306
ISSN: 0009-9163
PURE UUID: efe914fe-d61f-446d-bbdb-e4d9491d3df8

Catalogue record

Date deposited: 21 Aug 2012 12:53
Last modified: 27 Apr 2022 06:14

Export record

Altmetrics

Contributors

Author: Siddharth Banka
Author: Emma Howard
Author: Sancha Bunstone
Author: Kate E. Chandler
Author: Bronwyn Kerr
Author: Katherine Lachlan
Author: Shane McKee
Author: Sarju G. Mehta
Author: Ana Lisa Taylor Tavares
Author: John Tolmie
Author: Dian Donnai

Download statistics

Downloads from ePrints over the past year. Other digital versions may also be available to download e.g. from the publisher's website.

View more statistics

Atom RSS 1.0 RSS 2.0

Contact ePrints Soton: eprints@soton.ac.uk

ePrints Soton supports OAI 2.0 with a base URL of http://eprints.soton.ac.uk/cgi/oai2

This repository has been built using EPrints software, developed at the University of Southampton, but available to everyone to use.

We use cookies to ensure that we give you the best experience on our website. If you continue without changing your settings, we will assume that you are happy to receive cookies on the University of Southampton website.

×