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Journal of Medical Genetics jmg.bmj.com Contents Review 73 Can our understanding of epigenetics assist with primary prevention of congenital defects? M L Martínez-Frías Original articles 81 A de novo 1p34.2 microdeletion identifies the synaptic vesicle gene RIMS3 as a novel candidate for autism R A Kumar, J Sudi, T D Babatz, C W Brune, D Oswald, M Yen, N J Nowak, E H Cook, S L Christian, W B Dobyns 91 Disruption of ST5 is associated with mental retardation and multiple congenital anomalies I Göhring, A Tagariello, S Endele, C C Stolt, M Ghassibé, M Fisher, C T Thiel, U Trautmann, M Vikkula, A Winterpacht, D R FitzPatrick, A Rauch 99 Survival in women with MMR mutations and ovarian cancer: a multicentre study in Lynch syndrome kindreds E M Grindedal, L Renkonen-Sinisalo, H Vasen, G Evans, P Sala, I Blanco, J Gronwald, J Apold, D M Eccles, Á A Sánchez, J Sampson, H J Järvinen, L Bertario, G C Crawford, A T Stormorken, L Maehle, P Moller 103 Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split hand foot malformation (SHFM) are caused by chromosome 10q genomic rearrangements BI Dimitrov, T de Ravel, J Van Driessche, C de Die-Smulders, A Toutain, JR Vermeesch, JP Fryns, K Devriendt, P Debeer 112 De novo apparently balanced translocations in man are predominantly paternal in origin and associated with a significant increase in paternal age N S Thomas, J K Morris, J Baptista, B L Ng, J A Crolla, P A Jacobs Letters to JMG 116 A common variant in the adiponutrin gene influences liver enzyme values B Kollerits, S Coassin, S Kiechl, S C Hunt, B Paulweber, J Willeit, A Brandstätter, C Lamina, T D Adams, F Kronenberg 120 OPA1 increases the risk of normal but not high tension glaucoma P Yu-Wai-Man, J D Stewart, G Hudson, R M Andrews, P G Griffiths, M K Birch, P F Chinnery 126 Breast cancer susceptibility variants alter risks in familial disease A Latif, K D Hadfield, S A Roberts, A Shenton, F Lalloo, G C M Black, A Howell, D G Evans, W G Newman 132 Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia C Mignon-Ravix, P Cacciagli, B El-Waly, A Moncla, M Milh, N Girard, B Chabrol, N Philip, L Villard Mutation reports 137 De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin S E Heron, I E Scheffer, X Iona, S M Zuberi, R Birch, J M McMahon, C M Bruce, S F Berkovic, J C Mulley 142 Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations L Brugie `res, G Pierron, A Chompret, B Bressac-de Paillerets, F Di Rocco, P Varlet, A Pierre-Kahn, O Caron, J Grill, O Delattre February 2010 Volume 47 Issue 2 This article has been chosen by the Editor to be of special interest or importance and is freely available online. Articles carrying the Unlocked Logo are freely available online under the BMJ Journals unlocked scheme. See http://jmg.bmj.com/info/unlocked.dtl This journal is a member of and subscribes to the principles of the Committee on Publication Ethics www.publicationethics.org.uk Bead chip and LD blocks. Ray tracing image by C. Polychronakos http://virtualbeing.ca on July 8, 2021 by guest. Protected by copyright. http://jmg.bmj.com/ J Med Genet: first published as on 1 February 2010. Downloaded from

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Volum

e 47 Issue 2 Pages 73–144JO

UR

NA

LO

FM

EDIC

AL

GEN

ETICS

February 2010 jmg.bmj.com

February 2010 Volume 47 Issue 247

2Journal of Medical Genetics

jmg.bmj.com

ContentsReview73 Can our understanding of epigenetics assist

with primary prevention of congenital defects?M L Martínez-Frías

Original articles81 A de novo 1p34.2 microdeletion identifies the

synaptic vesicle gene RIMS3 as a novel candidate for autism R A Kumar, J Sudi, T D Babatz, C W Brune, D Oswald, M Yen, N J Nowak, E H Cook, S L Christian, W B Dobyns

91 Disruption of ST5 is associated with mentalretardation and multiple congenital anomalies I Göhring, A Tagariello, S Endele, C C Stolt, M Ghassibé, M Fisher, C T Thiel, U Trautmann, M Vikkula, A Winterpacht, D R FitzPatrick, A Rauch

99 Survival in women with MMR mutations andovarian cancer: a multicentre study in Lynchsyndrome kindreds E M Grindedal, L Renkonen-Sinisalo, H Vasen, G Evans, P Sala, I Blanco, J Gronwald, J Apold, D M Eccles, Á A Sánchez, J Sampson, H J Järvinen, L Bertario, G C Crawford, A T Stormorken, L Maehle, P Moller

103 Distal limb deficiencies, micrognathia syndrome, and syndromic forms of split handfoot malformation (SHFM) are caused by chromosome 10q genomic rearrangements BI Dimitrov, T de Ravel, J Van Driessche, C de Die-Smulders, A Toutain, JR Vermeesch, JP Fryns, K Devriendt, P Debeer

112 De novo apparently balanced translocations inman are predominantly paternal in origin andassociated with a significant increase in paternal age N S Thomas, J K Morris, J Baptista,B L Ng, J A Crolla, P A Jacobs

Letters to JMG116 A common variant in the adiponutrin gene

influences liver enzyme values B Kollerits, S Coassin, S Kiechl, S C Hunt, B Paulweber, J Willeit, A Brandstätter, C Lamina, T D Adams, F Kronenberg

120 OPA1 increases the risk of normal but not hightension glaucoma P Yu-Wai-Man, J D Stewart, G Hudson, R M Andrews, P G Griffiths, M K Birch, P F Chinnery

126 Breast cancer susceptibility variants alter risks in familial disease A Latif, K D Hadfield, S A Roberts, A Shenton, F Lalloo, G C M Black, A Howell, D G Evans, W G Newman

132 Deletion of YWHAE in a patient with periventricular heterotopias and pronounced corpus callosum hypoplasia C Mignon-Ravix, P Cacciagli, B El-Waly, A Moncla, M Milh, N Girard, B Chabrol, N Philip, L Villard

Mutation reports137 De novo SCN1A mutations in Dravet

syndrome and related epilepticencephalopathies are largely of paternal origin S E Heron, I E Scheffer, X Iona, S M Zuberi, R Birch, J M McMahon, C M Bruce, S F Berkovic, J C Mulley

142 Incomplete penetrance of the predisposition to medulloblastoma associated with germ-line SUFU mutations L Brugières, G Pierron, A Chompret, B Bressac-de Paillerets, F Di Rocco, P Varlet, A Pierre-Kahn, O Caron, J Grill, O Delattre

February 2010 Volume 47 Issue 2

This article has been chosen by the Editor tobe of special interest or importance and isfreely available online.

Articles carrying the Unlocked Logo are freelyavailable online under the BMJ Journalsunlocked scheme.See http://jmg.bmj.com/info/unlocked.dtl

This journal is a member of and subscribes tothe principles of the Committee on PublicationEthicswww.publicationethics.org.uk

JMGJournal of Medical Genetics

Bead chip and LD blocks.

Ray tracing image by C. Polychronakos http://virtualbeing.ca

JMG_47_2_COVER.qxd 2/4/10 7:42 AM Page 1

on July 8, 2021 by guest. Protected by copyright.

http://jmg.bm

j.com/

J Med G

enet: first published as on 1 February 2010. D

ownloaded from
http://jmg.bmj.com/