Review:

Fragile X syndrome: from molecular genetics to therapy

C D’Hulst and R F Kooy

J Med Genet 2009; 46: 577-584. doi:10.1136/jmg.2008.064667

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Original articles:

Epigenetic analysis of the critical region I for premature ovarian failure: demonstration of a highly heterochromatic domain on the long arm of the mammalian X chromosome

F Rizzolio, T Pramparo, C Sala, O Zuffardi, L De Santis, E Rabellotti, F Calzi, F Fusi, R Bellazzi, and D Toniolo

J Med Genet 2009; 46: 585-592.
Published Online First: 15 July 2008. doi:10.1136/jmg.2007.056093

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Screening for familial ovarian cancer: poor survival of BRCA1/2 related cancers

D G Evans, K N Gaarenstroom, D Stirling, A Shenton, L Maehle, A Dørum, M Steel, F Lalloo, J Apold, M E Porteous, H F A Vasen, C J van Asperen, and P Moller

J Med Genet 2009; 46: 593-597.
Published Online First: 15 April 2008. doi:10.1136/jmg.2008.058248

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Further clinical and molecular delineation of the 9q subtelomeric deletion syndrome supports a major contribution of EHMT1 haploinsufficiency to the core phenotype

T Kleefstra, W A van Zelst-Stams, W M Nillesen, V Cormier-Daire, G Houge, N Foulds, M van Dooren, M H Willemsen, R Pfundt, A Turner, M Wilson, J McGaughran, A Rauch, M Zenker, M P Adam, M Innes, C Davies, A González-Meneses López, R Casalone, A Weber, L A Brueton, A Delicado Navarro, M Palomares Bralo, H Venselaar, S P A Stegmann, H G Yntema, H van Bokhoven, and H G Brunner

J Med Genet 2009; 46: 598-606.
Published Online First: 4 March 2009. doi:10.1136/jmg.2008.062950

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Analysis of multigenerational families with thoracic aortic aneurysms and dissections due to TGFBR1 or TGFBR2 mutations

V Tran-Fadulu, H Pannu, D H Kim, G W Vick, III, C M Lonsford, A L Lafont, C Boccalandro, S Smart, K L Peterson, J Zenger Hain, M C Willing, J S Coselli, S A LeMaire, C Ahn, P H Byers, and D M Milewicz

J Med Genet 2009; 46: 607-613.
Published Online First: 18 June 2009. doi:10.1136/jmg.2008.062844

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Letter to JMG:

Association of IL18RAP and CCR3 with coeliac disease in the Spanish population

B Dema, A Martínez, M Fernández-Arquero, C Maluenda, I Polanco, E G de la Concha, E Urcelay, and C Núñez

J Med Genet 2009; 46: 617-619.
Published Online First: 18 June 2009. doi:10.1136/jmg.2009.067041

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Differences in SMN1 allele frequencies among ethnic groups within North America

B C Hendrickson, C Donohoe, V R Akmaev, E A Sugarman, P Labrousse, L Boguslavskiy, K Flynn, E M Rohlfs, A Walker, B Allitto, C Sears, and T Scholl

J Med Genet 2009; 46: 641-644.
Published Online First: 21 July 2009. doi:10.1136/jmg.2009.066969

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Short report:

A genome-wide association study suggests that a locus within the ataxin 2 binding protein 1 gene is associated with hand osteoarthritis: the Treat-OA consortium

G Zhai, J B J van Meurs, G Livshits, I Meulenbelt, A M Valdes, N Soranzo, D Hart, F Zhang, B S Kato, J B Richards, F M K Williams, M Inouye, M Kloppenburg, P Deloukas, E Slagboom, A Uitterlinden, and T D Spector

J Med Genet 2009; 46: 614-616.
Published Online First: 8 June 2009. doi:10.1136/jmg.2009.067314

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Letters to JMG:

ADVIRC is caused by distinct mutations in BEST1 that alter pre-mRNA splicing

R Burgess, R E MacLaren, A E Davidson, J E Urquhart, G E Holder, A G Robson, A T Moore, R O’ Keefe, G C M Black, and F D C Manson

J Med Genet 2009; 46: 620-625.
Published Online First: 8 July 2008. doi:10.1136/jmg.2008.059881

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Genomic duplication resulting in increased copy number of genes encoding the sister chromatid cohesion complex conveys clinical consequences distinct from Cornelia de Lange

J Yan, F Zhang, E Brundage, A Scheuerle, B Lanpher, R P Erickson, Z Powis, H B Robinson, P L Trapane, D Stachiw-Hietpas, K M Keppler-Noreuil, S R Lalani, T Sahoo, A C Chinault, A Patel, S W Cheung, and J R Lupski

J Med Genet 2009; 46: 626-634.
Published Online First: 3 December 2008. doi:10.1136/jmg.2008.062471

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19q13.11 deletion syndrome: a novel clinically recognisable genetic condition identified by array comparative genomic hybridisation

V Malan, O Raoul, H V Firth, G Royer, C Turleau, A Bernheim, L Willatt, A Munnich, M Vekemans, S Lyonnet, V Cormier-Daire, and L Colleaux

J Med Genet 2009; 46: 635-640.
Published Online First: 6 January 2009. doi:10.1136/jmg.2008.062034

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PostScript:

A newly recognised microdeletion syndrome of 2p15-16.1 manifesting moderate developmental delay, autistic behaviour, short stature, microcephaly, and dysmorphic features: a new patient with 3.2 Mb deletion

J-S Liang, K Shimojima, K Ohno, C Sugiura, Y Une, K Ohno, and T Yamamoto

J Med Genet 2009; 46: 645-647. doi:10.1136/jmg.2008.059220

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MECP2 mutation in one of Rett’s original patients

M Freilinger, A Berndt, and O A Haas

J Med Genet 2009; 46: 647-648. doi:10.1136/jmg.2008.063636

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What is paradominant inheritance?

R Happle

J Med Genet 2009; 46: 648. doi:10.1136/jmg.2009.069336

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