Original articles

	Mutations at the SALL4 locus on chromosome 20 result in a range of clinically overlapping phenotypes, including Okihiro syndrome, Holt-Oram syndrome, acro-renal-ocular syndrome, and patients previously reported to represent thalidomide embryopathy J Kohlhase, L Schubert, M Liebers, A Rauch, K Becker, S N Mohammed, R Newbury-Ecob, and W Reardon J Med Genet 2003; 40: 473-478. doi:10.1136/jmg.40.7.473 [Abstract] [Full text] [PDF] [Request Permissions]
	Subcellular localisation, secretion, and post-translational processing of normal cochlin, and of mutants causing the sensorineural deafness and vestibular disorder, DFNA9 N G Robertson, S A Hamaker, V Patriub, J C Aster, and C C Morton J Med Genet 2003; 40: 479-486. doi:10.1136/jmg.40.7.479 [Abstract] [Full text] [PDF] [Request Permissions]
	Heterogeneity in residual function of MeCP2 carrying missense mutations in the methyl CpG binding domain S Kudo, Y Nomura, M Segawa, N Fujita, M Nakao, C Schanen, and M Tamura J Med Genet 2003; 40: 487-493. doi:10.1136/jmg.40.7.487 [Abstract] [Full text] [PDF] [Request Permissions]
	Visceral manifestations in hereditary haemorrhagic telangiectasia type 2 S A Abdalla, U W Geisthoff, D Bonneau, H Plauchu, J McDonald, S Kennedy, M E Faughnan, and M Letarte J Med Genet 2003; 40: 494-502. doi:10.1136/jmg.40.7.494 [Abstract] [Full text] [PDF] [Request Permissions]
	Pre-test prediction models of BRCA1 or BRCA2 mutation in breast/ovarian families attending familial cancer clinics M de la Hoya, O Díez, P Pérez-Segura, J Godino, J M Fernández, J Sanz, C Alonso, M Baiget, E Díaz-Rubio, and T Caldés J Med Genet 2003; 40: 503-510. doi:10.1136/jmg.40.7.503 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	Alterations of the Birt-Hogg-Dubé gene (BHD) in sporadic colorectal tumours K Kahnoski, S K Khoo, N T Nassif, J Chen, G P Lobo, E Segelov, and B T Teh J Med Genet 2003; 40: 511-515. doi:10.1136/jmg.40.7.511 [Extract] [Full text] [PDF] [Request Permissions]
	A gene locus for branchio-otic syndrome maps to chromosome 14q21.3-q24.3 R G Ruf, J Berkman, M T F Wolf, P Nurnberg, M Gattas, E-M Ruf, V Hyland, J Kromberg, I Glass, J Macmillan, E Otto, G Nurnberg, B Lucke, H C Hennies, and F Hildebrandt J Med Genet 2003; 40: 515-519. doi:10.1136/jmg.40.7.515 [Extract] [Full text] [PDF] [Request Permissions]
	Mitotic recombination mediated by the JJAZF1 (KIAA0160) gene causing somatic mosaicism and a new type of constitutional NF1 microdeletion in two children of a mosaic female with only few manifestations E Petek, D E Jenne, J Smolle, B Binder, W Lasinger, C Windpassinger, K Wagner, P M Kroisel, and H Kehrer-Sawatzki J Med Genet 2003; 40: 520-525. doi:10.1136/jmg.40.7.520 [Extract] [Full text] [PDF] [Request Permissions]
	Unusual cognitive and behavioural profile in a Williams syndrome patient with atypical 7q11.23 deletion C Gagliardi, M C Bonaglia, A Selicorni, R Borgatti, and R Giorda J Med Genet 2003; 40: 526-530. doi:10.1136/jmg.40.7.526 [Extract] [Full text] [PDF] [Request Permissions]
	High frequency of T9 and CFTR mutations in children with idiopathic bronchiectasis V N Ninis, M O Kylynç, M Kandemir, E Daðly, and A Tolun J Med Genet 2003; 40: 530-535. doi:10.1136/jmg.40.7.530 [Extract] [Full text] [Publisher's Correction] [PDF] [Request Permissions]
	FMRP expression studies in blood and hair roots in a fragile X family with methylation mosaics B B A de Vries, L-A Severijnen, A Jacobs, R Olmer, D J J Halley, B A Oostra, and R Willemsen J Med Genet 2003; 40: 535-539. doi:10.1136/jmg.40.7.535 [Extract] [Full text] [PDF] [Request Permissions]
	A novel locus for autosomal recessive primary microcephaly (MCPH6) maps to 13q12.2 G F Leal, E Roberts, E O Silva, S M R Costa, D J Hampshire, and C G Woods J Med Genet 2003; 40: 540-542. doi:10.1136/jmg.40.7.540 [Extract] [Full text] [PDF] [Request Permissions]
	Karak syndrome: a novel degenerative disorder of the basal ganglia and cerebellum A Mubaidin, E Roberts, D Hampshire, M Dehyyat, A Shurbaji, M Mubaidien, A Jamil, A Al-Din, A Kurdi, and C G Woods J Med Genet 2003; 40: 543-546. doi:10.1136/jmg.40.7.543 [Extract] [Full text] [PDF] [Request Permissions]
	Myhre syndrome: new reports, review, and differential diagnosis L Burglen, D Héron, A Moerman, A Dieux-Coeslier, J-P Bourguignon, A Bachy, J-C Carel, V Cormier-Daire, S Manouvrier, and A Verloes J Med Genet 2003; 40: 546-551. doi:10.1136/jmg.40.7.546 [Extract] [Full text] [PDF] [Request Permissions]

Book reviews

	Huntington’s disease: 3rd edition. Editors Gillian Bates, Peter S Harper, and Lesley Jones. Oxford: Oxford University Press. 2002. ISBN 0 19 851060 8 (Hbk) David C Rubinsztein J Med Genet 2003; 40: 552. doi:10.1136/jmg.40.7.552 [Extract] [Full text] [PDF] [Request Permissions]

Echoes

	K469E allele of ICAM 1 is a candidate for susceptibility to IBD J Med Genet 2003; 40: 502. doi:10.1136/jmg.40.7.502 [Extract] [Full text] [PDF] [Request Permissions]
	... but CARD4/NO1 gene is not J Med Genet 2003; 40: 502. doi:10.1136/jmg.40.7.502-a [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Prevalence of family histories of breast cancer in the general population and the incidence of related seeking of health care C E Jacobi, M A Jonker, N J D Nagelkerke, J C van Houwelingen, and G H de Bock J Med Genet 2003; 40: e83. doi:10.1136/jmg.40.7.e83 [Extract] [Full text] [PDF] [Request Permissions]
	A supernumerary marker chromosome 15 tetrasomic for the Prader-Willi/Angelman syndrome critical region in a patient with a severe phenotype F Maggouta, S E Roberts, N R Dennis, M W M Veltman, and J A Crolla J Med Genet 2003; 40: e84. doi:10.1136/jmg.40.7.e84 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	Frequency of rare mitochondrial DNA mutations in patients with suspected Leber’s hereditary optic neuropathy R W Taylor, M S Jobling, D M Turnbull, and P F Chinnery J Med Genet 2003; 40: e85. doi:10.1136/jmg.40.7.e85 [Extract] [Full text] [PDF] [Request Permissions]
	Characterisation of repeat and palindrome elements in patients harbouring single deletions of mitochondrial DNA A Solano, J Gámez, F J Carod, M Pineda, A Playán, E López-Gallardo, A L Andreu, and J Montoya J Med Genet 2003; 40: e86. doi:10.1136/jmg.40.7.e86 [Extract] [Full text] [PDF] [Request Permissions]
	Phenotypic and genetic exploration of severe demyelinating and secondary axonal neuropathies resulting from GDAP1 nonsense and splicing mutations A De Sandre-Giovannoli, M Chaouch, I Boccaccio, R Bernard, V Delague, D Grid, J M Vallat, N Lévy, and A Mégarbané J Med Genet 2003; 40: e87. doi:10.1136/jmg.40.7.e87 [Extract] [Full text] [PDF] [Request Permissions]
	Transcript analysis of the cystic fibrosis splicing mutation 1525-1G>A shows use of multiple alternative splicing sites and suggests a putative role of exonic splicing enhancers A S Ramalho, S Beck, D Penque, T Gonska, H H Seydewitz, M Mall, and M D Amaral J Med Genet 2003; 40: e88. doi:10.1136/jmg.40.7.e88 [Extract] [Full text] [PDF] [Request Permissions]
	Study of the involvement of the RGR, CRPB1, and CRB1 genes in the pathogenesis of autosomal recessive retinitis pigmentosa S Bernal, M Calaf, M Garcia-Hoyos, B Garcia-Sandoval, J Rosell, A Adan, C Ayuso, and M Baiget J Med Genet 2003; 40: e89. doi:10.1136/jmg.40.7.e89 [Extract] [Full text] [PDF] [Request Permissions]
	Evidence of autosomal dominant Leber congenital amaurosis (LCA) underlain by a CRX heterozygous null allele I Perrault, S Hanein, S Gerber, F Barbet, J-L Dufier, A Munnich, J-M Rozet, and J Kaplan J Med Genet 2003; 40: e90. doi:10.1136/jmg.40.7.e90 [Extract] [Full text] [PDF] [Request Permissions]