Original articles

	The effect of a single BRCA2 mutation on cancer in Iceland H Tulinius, G H Olafsdottir, H Sigvaldason, A Arason, R B Barkardottir, V Egilsson, H M Ogmundsdottir, L Tryggvadottir, S Gudlaugsdottir, and J E Eyfjord J Med Genet 2002; 39: 457-462. doi:10.1136/jmg.39.7.457 [Abstract] [Full text] [PDF] [Request Permissions]
	Genetic and functional analysis of the von Hippel-Lindau (VHL) tumour suppressor gene promoter M Zatyka, C Morrissey, I Kuzmin, M I Lerman, F Latif, F M Richards, and E R Maher J Med Genet 2002; 39: 463-472. doi:10.1136/jmg.39.7.463 [Abstract] [Full text] [PDF] [Request Permissions]
	Linkage of otosclerosis to a third locus (OTSC3) on human chromosome 6p21.3-22.3 W Chen, C A Campbell, G E Green, K Van Den Bogaert, C Komodikis, L S Manolidis, E Aconomou, Y Kyamides, K Christodoulou, C Faghel, C M Giguére, R L Alford, S Manolidis, G Van Camp, and R J H Smith J Med Genet 2002; 39: 473-477. doi:10.1136/jmg.39.7.473 [Abstract] [Full text] [PDF] [Request Permissions]
	Analysis of the phenotypic abnormalities in lymphoedema-distichiasis syndrome in 74 patients with FOXC2 mutations or linkage to 16q24 G Brice, S Mansour, R Bell, J R O Collin, A H Child, A F Brady, M Sarfarazi, K G Burnand, S Jeffery, P Mortimer, and V A Murday J Med Genet 2002; 39: 478-483. doi:10.1136/jmg.39.7.478 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	Novel autosomal dominant mandibulofacial dysostosis with ptosis: clinical description and exclusion of TCOF1 P Hedera, H V Toriello, and E M Petty J Med Genet 2002; 39: 484-488. doi:10.1136/jmg.39.7.484 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	Linkage stratification and mutation analysis at the parkin locus identifies mutation positive Parkinson's disease families W C Nichols, N Pankratz, S K Uniacke, M W Pauciulo, C Halter, A Rudolph, P M Conneally, and T Foroud J Med Genet 2002; 39: 489-492. doi:10.1136/jmg.39.7.489 [Extract] [Full text] [PDF] [Request Permissions]
	Screening of TCOF1 in patients from different populations: confirmation of mutational hot spots and identification of a novel missense mutation that suggests an important functional domain in the protein treacle A Splendore, E W Jabs, and M R Passos-Bueno J Med Genet 2002; 39: 493-495. doi:10.1136/jmg.39.7.493 [Extract] [Full text] [PDF] [Request Permissions]
	Molecular studies in 10 cases of Rubinstein-Taybi syndrome, including a mild variant showing a missense mutation in codon 1175 of CREBBP O Bartsch, K Locher, P Meinecke, W Kress, E Seemanová, A Wagner, K Ostermann, and G Rödel J Med Genet 2002; 39: 496-501. doi:10.1136/jmg.39.7.496 [Extract] [Full text] [PDF] [Request Permissions]
	Q829X, a novel mutation in the gene encoding otoferlin (OTOF), is frequently found in Spanish patients with prelingual non-syndromic hearing loss V Migliosi, S Modamio-Høybjør, M A Moreno-Pelayo, M Rodríguez-Ballesteros, M Villamar, D Tellería, I Menéndez, F Moreno, and I del Castillo J Med Genet 2002; 39: 502-506. doi:10.1136/jmg.39.7.502 [Extract] [Full text] [PDF] [Request Permissions]
	Localisation of the Y chromosome stature gene to a 700 kb interval in close proximity to the centromere S Kirsch, B Weiss, S Kleiman, K Roberts, J Pryor, A Milunsky, A Ferlin, C Foresta, G Matthijs, and G A Rappold J Med Genet 2002; 39: 507-513. doi:10.1136/jmg.39.7.507 [Extract] [Full text] [PDF] [Request Permissions]
	Deletion of 9p associated with gonadal dysfunction in 46,XY but not in 46,XX human fetuses F Vialard, C Ottolenghi, M Gonzales, A Choiset, S Girard, J P Siffroi, K McElreavey, C Vibert-Guigue, M Sebaoun, N Joyé, M F Portnoï, F Jaubert, and M Fellous J Med Genet 2002; 39: 514-518. doi:10.1136/jmg.39.7.514 [Extract] [Full text] [PDF] [Request Permissions]
	Maternal uniparental disomy 12 in a healthy girl with a 47,XX,+der(12)(:p11q11:)/46,XX karyotype F von Eggeling, C Hoppe, U Bartz, H Starke, G Houge, U Claussen, G Ernst, D Kotzot, and T Liehr J Med Genet 2002; 39: 519-521. doi:10.1136/jmg.39.7.519 [Extract] [Full text] [PDF] [Request Permissions]
	Predictive testing in the context of pregnancy: experience in Huntington's disease and autosomal dominant cerebellar ataxia G Lesca, C Goizet, and A Dürr J Med Genet 2002; 39: 522-525. doi:10.1136/jmg.39.7.522 [Extract] [Full text] [PDF] [Request Permissions]
	Concerns of women presenting to a comprehensive cancer centre for genetic cancer risk assessment D J MacDonald, J Choi, B Ferrell, S Sand, S McCaffrey, K R Blazer, M Grant, and J N Weitzel J Med Genet 2002; 39: 526-530. doi:10.1136/jmg.39.7.526 [Extract] [Full text] [PDF] [Request Permissions]
	Management of women with a family history of breast cancer in the North West Region of England: training for implementing a vision of the future M McAllister, K O'Malley, P Hopwood, B Kerr, A Howell, and D G R Evans J Med Genet 2002; 39: 531-535. doi:10.1136/jmg.39.7.531 [Extract] [Full text] [PDF] [Request Permissions]

Echoes

	Serrated adenoma and APC gene mutation J Med Genet 2002; 39: 462. doi:10.1136/jmg.39.7.462 [Extract] [Full text] [PDF] [Request Permissions]
	Close relatives: distant relations J Med Genet 2002; 39: 477. doi:10.1136/jmg.39.7.477 [Extract] [Full text] [PDF] [Request Permissions]
	From errant enzymes to colon cancers J Med Genet 2002; 39: 488. doi:10.1136/jmg.39.7.488 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Breakpoint analysis of a familial balanced translocation t(2;8)(q31;p21) associated with mesomelic dysplasia H Sugawara, M Egashira, N Harada, T C Jakobs, K Yoshiura, T Kishino, T Ohta, N Niikawa, and N Matsumoto J Med Genet 2002; 39: e34. doi:10.1136/jmg.39.7.e34 [Extract] [Full text] [PDF] [Request Permissions]
	Novel BRCA2 mutation in a Polish family with hamartoma and two male breast cancers E Kwiatkowska, I Brozek, E Izycka-Swieszewska, J Limon, and A Mackiewicz J Med Genet 2002; 39: e35. doi:10.1136/jmg.39.7.e35 [Extract] [Full text] [PDF] [Request Permissions]
	Detection of large rearrangements of exons 13 and 22 in the BRCA1 gene in German families W Hofmann, B Wappenschmidt, S Berhane, R Schmutzler, and S Scherneck J Med Genet 2002; 39: e36. doi:10.1136/jmg.39.7.e36 [Extract] [Full text] [PDF] [Request Permissions]
	Comorbid VHL and SCA2 mutations in a large kindred: confounding diagnosis of neurological dysfunction caused by CNS VHL vascular tumours versus SCA2 atrophic neurodegeneration D E McNeil, W M Linehan, and G M Glenn J Med Genet 2002; 39: e37. doi:10.1136/jmg.39.7.e37 [Extract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	Germline mutations in the von Hippel-Lindau (VHL) gene in patients from Poland: disease presentation in patients with deletions of the entire VHL gene C Cybulski, K Krzystolik, A Murgia, B Górski, T Debniak, A Jakubowska, M Martella, G Kurzawski, M Prost, I Kojder, J Limon, P Nowacki, L Sagan, B Bialas, J Kaluza, M Zdunek, A Omulecka, D Jaskólski, E Kostyk, B Koraszewska-Matuszewska, O Haus, H Janiszewska, K Pecold, M Starzycka, R Slomski, M Cwirko, A Sikorski, B Gliniewicz, L Cyrylowski, L Fiszer-Maliszewska, J Gronwald, A Toloczko-Grabarek, S Zajaczek, and J Lubinski J Med Genet 2002; 39: e38. doi:10.1136/jmg.39.7.e38 [Extract] [Full text] [PDF] [Request Permissions]
	Identification of 13 new mutations in the ACVRL1 gene in a group of 52 unselected Italian patients affected by hereditary haemorrhagic telangiectasia C Olivieri, E Mira, G Delù, F Pagella, A Zambelli, L Malvezzi, E Buscarini, and C Danesino J Med Genet 2002; 39: e39. doi:10.1136/jmg.39.7.e39 [Extract] [Full text] [PDF] [Request Permissions]
	Alkaptonuria in the Dominican Republic: identification of the founder AKU mutation and further evidence of mutation hot spots in the HGO gene E Goicoechea de Jorge, I Lorda, M E Gallardo, B Pérez, C Peréz de Ferrán, H Mendoza, and S Rodríguez de Córdoba J Med Genet 2002; 39: e40. doi:10.1136/jmg.39.7.e40 [Extract] [Full text] [PDF] [Request Permissions]