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Evaluation of NSD2 and NSD3 in overgrowth syndromes

Evaluation of NSD2 and NSD3 in overgrowth syndromes
Evaluation of NSD2 and NSD3 in overgrowth syndromes
Sotos syndrome is an overgrowth condition predominantly caused by truncating mutations, missense mutations restricted to functional domains, or deletions of NSD1. NSD1 is a member of a protein family that includes NSD2 and NSD3, both of which show 70?75% sequence identity with NSD1. This strong sequence similarity suggests that abrogation of NSD2 or NSD3 function may cause non-NSD1 Sotos cases or other overgrowth phenotypes. To evaluate this hypothesis, we mutationally screened NSD2 and NSD3 in 78 overgrowth syndrome cases in which NSD1 mutations and deletions had been excluded. Additionally, we used microsatellite markers within the vicinity of the genes to look for whole gene deletions. No truncating mutations or gene deletions were identified in either gene. We identified two conservative missense NSD2 alterations in two non-Sotos overgrowth cases but neither was within a functional domain. We identified three synonymous and two intronic variants in NSD2 and two synonymous base substitutions in NSD3. Our results suggest that despite strong sequence similarity between NSD1, NSD2 and NSD3, the latter genes are unlikely to be making a substantial contribution to overgrowth phenotypes and thus may operate in distinct functional pathways from NSD1.
sotos syndrome, overgrowth syndromes, nsd1, nsd2, nsd3
1018-4813
150-153
Douglas, Jenny
0af40e1f-3a73-4d8c-9e14-3c78f1eb37f7
Coleman, Kim
14d4c43b-9ec3-4d2f-ba7f-f8521facc4ae
Tatton-Brown, Katrina
dbad5eb1-70eb-4fde-8f67-a37ff32ef9c6
Hughes, Helen E.
70f25414-05ba-4215-acf5-6a8c60efc33e
Temple, I. Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Cole, Trevor R.P.
121174fc-3f81-46a1-b87a-6da9bf3ddb62
Rahman, Nazneen
d5eded76-0af9-4d72-8fea-84986bf49c51
Douglas, Jenny
0af40e1f-3a73-4d8c-9e14-3c78f1eb37f7
Coleman, Kim
14d4c43b-9ec3-4d2f-ba7f-f8521facc4ae
Tatton-Brown, Katrina
dbad5eb1-70eb-4fde-8f67-a37ff32ef9c6
Hughes, Helen E.
70f25414-05ba-4215-acf5-6a8c60efc33e
Temple, I. Karen
d63e7c66-9fb0-46c8-855d-ee2607e6c226
Cole, Trevor R.P.
121174fc-3f81-46a1-b87a-6da9bf3ddb62
Rahman, Nazneen
d5eded76-0af9-4d72-8fea-84986bf49c51

Douglas, Jenny, Coleman, Kim, Tatton-Brown, Katrina, Hughes, Helen E., Temple, I. Karen, Cole, Trevor R.P. and Rahman, Nazneen (2005) Evaluation of NSD2 and NSD3 in overgrowth syndromes. European Journal of Human Genetics, 13 (2), 150-153. (doi:10.1038/sj.ejhg.5201298).

Record type: Article

Abstract

Sotos syndrome is an overgrowth condition predominantly caused by truncating mutations, missense mutations restricted to functional domains, or deletions of NSD1. NSD1 is a member of a protein family that includes NSD2 and NSD3, both of which show 70?75% sequence identity with NSD1. This strong sequence similarity suggests that abrogation of NSD2 or NSD3 function may cause non-NSD1 Sotos cases or other overgrowth phenotypes. To evaluate this hypothesis, we mutationally screened NSD2 and NSD3 in 78 overgrowth syndrome cases in which NSD1 mutations and deletions had been excluded. Additionally, we used microsatellite markers within the vicinity of the genes to look for whole gene deletions. No truncating mutations or gene deletions were identified in either gene. We identified two conservative missense NSD2 alterations in two non-Sotos overgrowth cases but neither was within a functional domain. We identified three synonymous and two intronic variants in NSD2 and two synonymous base substitutions in NSD3. Our results suggest that despite strong sequence similarity between NSD1, NSD2 and NSD3, the latter genes are unlikely to be making a substantial contribution to overgrowth phenotypes and thus may operate in distinct functional pathways from NSD1.

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More information

Published date: 2005
Keywords: sotos syndrome, overgrowth syndromes, nsd1, nsd2, nsd3

Identifiers

Local EPrints ID: 24688
URI: http://eprints.soton.ac.uk/id/eprint/24688
ISSN: 1018-4813
PURE UUID: 4d5955b9-8b63-40e9-b591-a5655b453147
ORCID for I. Karen Temple: ORCID iD orcid.org/0000-0002-6045-1781

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Date deposited: 04 Apr 2006
Last modified: 16 Mar 2024 03:03

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Contributors

Author: Jenny Douglas
Author: Kim Coleman
Author: Katrina Tatton-Brown
Author: Helen E. Hughes
Author: I. Karen Temple ORCID iD
Author: Trevor R.P. Cole
Author: Nazneen Rahman

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