Review articles

	Current status of human chromosome 14 D Kamnasaran and D W Cox J Med Genet 2002; 39: 81-90. doi:10.1136/jmg.39.2.81 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	Identification of a 52 kb deletion downstream of the SOST gene in patients with van Buchem disease W Balemans, N Patel, M Ebeling, E Van Hul, W Wuyts, C Lacza, M Dioszegi, F G Dikkers, P Hildering, P J Willems, J B G M Verheij, K Lindpaintner, B Vickery, D Foernzler, and W Van Hul J Med Genet 2002; 39: 91-97. doi:10.1136/jmg.39.2.91 [Abstract] [Full text] [PDF] [Request Permissions]
	The fibulin-1 gene (FBLN1) is disrupted in a t(12;22) associated with a complex type of synpolydactyly P Debeer, E F P M Schoenmakers, W O Twal, W S Argraves, L De Smet, J-P Fryns, and W J M Van de Ven J Med Genet 2002; 39: 98-104. doi:10.1136/jmg.39.2.98 [Abstract] [Full text] [PDF] [Request Permissions]
	A locus for isolated cataract on human Xp P J Francis, V Berry, A J Hardcastle, E R Maher, A T Moore, and S S Bhattacharya J Med Genet 2002; 39: 105-109. doi:10.1136/jmg.39.2.105 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13 M J Abramowicz, J Albuquerque-Silva, and A Zanen J Med Genet 2002; 39: 110-112. doi:10.1136/jmg.39.2.110 [Abstract] [Full text] [PDF] [Request Permissions]
	Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation A-M Lossi, F Laugier-Anfossi, D Depetris, J Gecz, A Gedeon, F Kooy, C Schwartz, M-G Mattei, M-F Croquette, and L Villard J Med Genet 2002; 39: 113-117. doi:10.1136/jmg.39.2.113 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36 L Naiglin, C Gazagne, F Dallongeville, C Thalamas, A Idder, O Rascol, F Malecaze, and P Calvas J Med Genet 2002; 39: 118-124. doi:10.1136/jmg.39.2.118 [Extract] [Full text] [PDF] [Request Permissions]
	Supportive evidence for the DYX3 dyslexia susceptibility gene in Canadian families T L Petryshen, B J Kaplan, M L Hughes, J Tzenova, and L L Field J Med Genet 2002; 39: 125-126. doi:10.1136/jmg.39.2.125 [Extract] [Full text] [PDF] [Request Permissions]
	Unique de novo mutation of BRCA2 in a woman with early onset breast cancer M Robson, L Scheuer, K Nafa, N Ellis, and K Offit J Med Genet 2002; 39: 126-128. doi:10.1136/jmg.39.2.126 [Extract] [Full text] [PDF] [Request Permissions]
	A variant of osteogenesis imperfecta type IV with resolving kyphomelia is caused by a novel COL1A2 mutation M T Johnson, S Morrison, S Heeger, S Mooney, P H Byers, and N H Robin J Med Genet 2002; 39: 128-132. doi:10.1136/jmg.39.2.128 [Extract] [Full text] [PDF] [Request Permissions]
	Functional characterisation of MeCP2 mutations found in male patients with X linked mental retardation S Kudo, Y Nomura, M Segawa, N Fujita, M Nakao, S Hammer, C Schanen, I Terai, and M Tamura J Med Genet 2002; 39: 132-136. doi:10.1136/jmg.39.2.132 [Extract] [Full text] [PDF] [Request Permissions]
	Acrofacial dysostosis in a patient with the TSC2-PKD1 contiguous gene syndrome J G Dauwerse, K Bouman, A J van Essen, A H van der Hout, G Kolsters, M H Breuning, and D J M Peters J Med Genet 2002; 39: 136-141. doi:10.1136/jmg.39.2.136 [Extract] [Full text] [PDF] [Request Permissions]
	Partial trisomy 9p12p21.3 with a normal phenotype M Stumm, J Müsebeck, H Tönnies, M Volleth, J Lemke, I Chudoba, and P Wieacker J Med Genet 2002; 39: 141-144. doi:10.1136/jmg.39.2.141 [Extract] [Full text] [PDF] [Request Permissions]
	Craniofacial anomalies, cataracts, congenital heart disease, sacral neural tube defects, and growth and developmental retardation in two sisters: a new autosomal recessive MCA/MR syndrome? J Siegel-Bartlet, A Levin, A S Teebi, and S J Kennedy J Med Genet 2002; 39: 145-148. doi:10.1136/jmg.39.2.145 [Extract] [Full text] [PDF] [Request Permissions]
	Dysmorphism, variable overgrowth, normal bone age, and severe developmental delay: a "Sotos-like" syndrome? J Amiel, L Faivre, L Wilson, M Le Merrer, A Munnich, R Winter, S Lyonnet, and V Cormier-Daire J Med Genet 2002; 39: 148-152. doi:10.1136/jmg.39.2.148 [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Molecular changes in skin predict predisposition to breast cancer V J James and B E Willis J Med Genet 2002; 39: e1. doi:10.1136/jmg.39.2.e1 [Extract] [Full text] [PDF] [Request Permissions]
	Spastic paraparesis and atypical dementia caused by PSEN1 mutation (P264L), responsible for Alzheimer's disease M-L Jacquemont, D Campion, V Hahn, C Tallaksen, T Frebourg, A Brice, and A Durr J Med Genet 2002; 39: e2. doi:10.1136/jmg.39.2.e2 [Extract] [Full text] [PDF] [Request Permissions]
	Identification and characterisation of mutations underlying Sanfilippo syndrome type B (mucopolysaccharidosis type IIIB) G-J Lee-Chen, S-P Lin, S-Z Lin, C-K Chuang, K-T Hsiao, C-F Huang, and W-C Lien J Med Genet 2002; 39: e3. doi:10.1136/jmg.39.2.e3 [Extract] [Full text] [PDF] [Request Permissions]
	Severe phenotype in Angelman syndrome resulting from paternal isochromosome 15 D Poyatos, M Guitart, E Gabau, C Brun, M Mila, J Vaquerizo, and M D Coll J Med Genet 2002; 39: e4. doi:10.1136/jmg.39.2.e4 [Extract] [Full text] [PDF] [Request Permissions]
	Inositol and folate resistant neural tube defects P Cavalli and A J Copp J Med Genet 2002; 39: e5. doi:10.1136/jmg.39.2.e5 [Extract] [Full text] [PDF] [Request Permissions]
	Constitutional de novo interstitial deletion of 8 Mb on chromosome 22q12.1-12.3 encompassing the neurofibromatosis type 2 (NF2) locus in a dysmorphic girl with severe malformations G Barbi, E Rossier, S Vossbeck, H Hummler, D Lang, F Flock, R Terinde, J Wirth, W Vogel, and H Kehrer-Sawatzki J Med Genet 2002; 39: e6. doi:10.1136/jmg.39.2.e6 [Extract] [Full text] [PDF] [Request Permissions]
	Refined mapping of the gene for otopalatodigital syndrome type I T Kosho, T Uemura, M Tanimura, H Ohashi, K Muroya, and T Ogata J Med Genet 2002; 39: e7. doi:10.1136/jmg.39.2.e7 [Extract] [Full text] [PDF] [Request Permissions]
	A case of Costello syndrome and glycogen storage disease type III M Kaji, K Kurokawa, T Hasegawa, K Oguro, A Saito, T Fukuda, M Ito, and H Sugie J Med Genet 2002; 39: e8. doi:10.1136/jmg.39.2.e8 [Extract] [Full text] [PDF] [Request Permissions]
	A patient with a supernumerary marker chromosome (15), Angelman syndrome, and uniparental disomy resulting from paternal meiosis II non-disjunction S Roberts, F Maggouta, R Thompson, S Price, and S Thomas J Med Genet 2002; 39: e9. doi:10.1136/jmg.39.2.e9 [Extract] [Full text] [PDF] [Request Permissions]
	Exclusion of PTEN, CTNNB1, and PTCH as candidate genes for Birt-Hogg-Dube syndrome J R Toro, Y O Shevchenko, J G Compton, and S J Bale J Med Genet 2002; 39: e10. doi:10.1136/jmg.39.2.e10 [Extract] [Full text] [PDF] [Request Permissions]