Original articles

	Distinct CDH3 mutations cause ectodermal dysplasia, ectrodactyly, macular dystrophy (EEM syndrome) K W Kjaer, L Hansen, G C Schwabe, A P Marques-de-Faria, H Eiberg, S Mundlos, N Tommerup, and T Rosenberg J Med Genet 2005; 42: 292-298. doi:10.1136/jmg.2004.027821 [Abstract] [Full text] [PDF] [Request Permissions]
	Disruption of the gene Euchromatin Histone Methyl Transferase1 (Eu-HMTase1) is associated with the 9q34 subtelomeric deletion syndrome T Kleefstra, M Smidt, M J G Banning, A R Oudakker, H Van Esch, A P M de Brouwer, W Nillesen, E A Sistermans, B C J Hamel, D de Bruijn, J-P Fryns, H G Yntema, H G Brunner, B B A de Vries, and H van Bokhoven J Med Genet 2005; 42: 299-306. doi:10.1136/jmg.2004.028464 [Abstract] [Full text] [PDF] [Request Permissions]
	Multiple mechanisms are implicated in the generation of 5q35 microdeletions in Sotos syndrome K Tatton-Brown, J Douglas, K Coleman, G Baujat, K Chandler, A Clarke, A Collins, S Davies, F Faravelli, H Firth, C Garrett, H Hughes, B Kerr, J Liebelt, W Reardon, G B Schaefer, M Splitt, I K Temple, D Waggoner, D D Weaver, L Wilson, T Cole, V Cormier-Daire, A Irrthum, N Rahman, on behalf of the Childhood Overgrowth Collaboration J Med Genet 2005; 42: 307-313. doi:10.1136/jmg.2004.027755 [Abstract] [Full text] [PDF] [Request Permissions]

Hypothesis

	Increased prevalence of imprinting defects in patients with Angelman syndrome born to subfertile couples M Ludwig, A Katalinic, S Groß, A Sutcliffe, R Varon, and B Horsthemke J Med Genet 2005; 42: 289-291. doi:10.1136/jmg.2004.026930 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	A homozygous BMPR1B mutation causes a new subtype of acromesomelic chondrodysplasia with genital anomalies O Demirhan, S Türkmen, G C Schwabe, S Soyupak, E Akgül, D Tastemir, D Karahan, S Mundlos, and K Lehmann J Med Genet 2005; 42: 314-317. doi:10.1136/jmg.2004.023564 [Abstract] [Full text] [PDF] [Request Permissions]
	Subset of individuals with autism spectrum disorders and extreme macrocephaly associated with germline PTEN tumour suppressor gene mutations M G Butler, M J Dasouki, X-P Zhou, Z Talebizadeh, M Brown, T N Takahashi, J H Miles, C H Wang, R Stratton, R Pilarski, and C Eng J Med Genet 2005; 42: 318-321. doi:10.1136/jmg.2004.024646 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to JMG

	Ancestral RET haplotype associated with Hirschsprung’s disease shows linkage disequilibrium breakpoint at –1249 R M Fernandez, G Boru, A Peciña, K Jones, M López-Alonso, G Antiñolo, S Borrego, and C Eng J Med Genet 2005; 42: 322-327. doi:10.1136/jmg.2004.023960 [Extract] [Full text] [PDF] [Request Permissions]
	Deletion 9q34.3 syndrome: genotype-phenotype correlations and an extended deletion in a patient with features of Opitz C trigonocephaly S A Yatsenko, S W Cheung, D A Scott, M J M Nowaczyk, M Tarnopolsky, S Naidu, G Bibat, A Patel, J G Leroy, F Scaglia, P Stankiewicz, and J R Lupski J Med Genet 2005; 42: 328-335. doi:10.1136/jmg.2004.028258 [Extract] [Full text] [PDF] [Request Permissions]
	Comprehensive genomic analysis of PKHD1 mutations in ARPKD cohorts A M Sharp, L M Messiaen, G Page, C Antignac, M-C Gubler, L F Onuchic, S Somlo, G G Germino, and L M Guay-Woodford J Med Genet 2005; 42: 336-349. doi:10.1136/jmg.2004.024489 [Extract] [Full text] [Web-only tables] [PDF] [Request Permissions]
	DHCR7 nonsense mutations and characterisation of mRNA nonsense mediated decay in Smith-Lemli-Opitz syndrome L S Correa-Cerro, C A Wassif, J S Waye, P A Krakowiak, D Cozma, N R Dobson, S W Levin, G Anadiotis, R D Steiner, M Krajewska-Walasek, M J M Nowaczyk, and F D Porter J Med Genet 2005; 42: 350-357. doi:10.1136/jmg.2004.022749 [Extract] [Full text] [PDF] [Request Permissions]
	Genetics of Charcot-Marie-Tooth disease type 4A: mutations, inheritance, phenotypic variability, and founder effect R Claramunt, L Pedrola, T Sevilla, A López de Munain, J Berciano, A Cuesta, B Sánchez-Navarro, J M Millán, G M Saifi, J R Lupski, J J Vílchez, C Espinós, and F Palau J Med Genet 2005; 42: 358-365. doi:10.1136/jmg.2004.022178 [Extract] [Full text] [PDF] [Request Permissions]
	Inadvertent diagnosis of male infertility through genealogical DNA testing T E King, E Bosch, S M Adams, E J Parkin, Z H Rosser, and M A Jobling J Med Genet 2005; 42: 366-368. doi:10.1136/jmg.2004.023796 [Extract] [Full text] [PDF] [Request Permissions]

Echoes

	Further evidence of genetic heterogeneity in familial exudative vitreoretinopathy; exclusion of EVR1, EVR3, and EVR4 in a large autosomal dominant pedigree C Toomes, L M Downey, H M Bottomley, H A Mintz-Hittner, and C F Inglehearn J Med Genet 2005; 42: 291. [Extract] [Full text] [PDF] [Request Permissions]
	Posterior polar cataract is the predominant consequence of a recurrent mutation in the PITX3 gene P K F Addison, V Berry, A C W Ionides, P J Francis, S S Bhattacharya, and A T Moore J Med Genet 2005; 42: 313. [Extract] [Full text] [PDF] [Request Permissions]

Electronic letters

	Association of the 103I MC4R allele with decreased body mass in 7937 participants of two population based surveys I M Heid, C Vollmert, A Hinney, A Döring, F Geller, H Löwel, H-E Wichmann, T Illig, J Hebebrand, F Kronenberg, the KORA Group J Med Genet 2005; 42: e21. doi:10.1136/jmg.2004.027011 [Abstract] [Full text] [PDF] [Request Permissions]

Online mutation reports

	No MSH6 germline mutations in breast cancer families with colorectal and/or endometrial cancer P Vahteristo, S Ojala, A Tamminen, J Tommiska, H Sammalkorpi, S Kiuru-Kuhlefelt, H Eerola, L A Aaltonen, K Aittomäki, and H Nevanlinna J Med Genet 2005; 42: e22. doi:10.1136/jmg.2004.022327 [Abstract] [Full text] [PDF] [Request Permissions]
	High frequency of APOB gene mutations causing familial hypobetalipoproteinaemia in patients of Dutch and Spanish descent S W Fouchier, R R Sankatsing, J Peter, S Castillo, M Pocovi, R Alonso, J J P Kastelein, and J C Defesche J Med Genet 2005; 42: e23. doi:10.1136/jmg.2004.029454 [Abstract] [Full text] [PDF] [Request Permissions]