Review:

Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist

C Lintas and A M Persico

J Med Genet 2009; 46: 1-8.
Published Online First: 26 August 2008. doi:10.1136/jmg.2008.060871

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Original articles:

Clinical experience in the evaluation of 30 patients with a prior diagnosis of FG syndrome

M J Lyons, J M Graham, Jr, G Neri, A G W Hunter, R D Clark, R C Rogers, M Moscarda, L Boccuto, R Simensen, J Dodd, S Robertson, B R DuPont, M J Friez, C E Schwartz, and R E Stevenson

J Med Genet 2009; 46: 9-13.
Published Online First: 19 September 2008. doi:10.1136/jmg.2008.060509

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Mutation in the HPGD gene encoding NAD⁺ dependent 15-hydroxyprostaglandin dehydrogenase underlies isolated congenital nail clubbing (ICNC)

M Tariq, Z Azeem, G Ali, M S Chishti, and W Ahmad

J Med Genet 2009; 46: 14-20.
Published Online First: 19 September 2008. doi:10.1136/jmg.2008.061234

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Phenotypic variation within European carriers of the Y-chromosomal gr/gr deletion is independent of Y-chromosomal background

C Krausz, C Giachini, Y Xue, M K O’Bryan, J Gromoll, E Rajpert-de Meyts, R Oliva, I Aknin-Seifer, E Erdei, N Jorgensen, M Simoni, J L Ballescà, R Levy, G Balercia, P Piomboni, E Nieschlag, G Forti, R McLachlan, and C Tyler-Smith

J Med Genet 2009; 46: 21-31.
Published Online First: 9 September 2008. doi:10.1136/jmg.2008.059915

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Functional polymorphisms in the BRCA1 promoter influence transcription and are associated with decreased risk for breast cancer in Chinese women

K Y-K Chan, W Liu, J-R Long, S-P Yip, S-Y Chan, X-O Shu, D T-T Chua, A N-Y Cheung, J C-Y Ching, H Cai, G K-H Au, M Chan, W Foo, H Y-S Ngan, Y-T Gao, E S-W Ngan, M-M Garcia-Barceló, Wei Zheng, and U-S Khoo

J Med Genet 2009; 46: 32-39.
Published Online First: 9 September 2008. doi:10.1136/jmg.2007.057174

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Site-dependent differences in both prelamin A and adipogenic genes in subcutaneous adipose tissue of patients with type 2 familial partial lipodystrophy

D Araújo-Vilar, G Lattanzi, B González-Méndez, A T Costa-Freitas, D Prieto, M Columbaro, E Mattioli, B Victoria, N Martínez-Sánchez, A Ramazanova, M Fraga, A Beiras, J Forteza, L Domínguez-Gerpe, C Calvo, and J Lado-Abeal

J Med Genet 2009; 46: 40-48.
Published Online First: 19 September 2008. doi:10.1136/jmg.2008.059485

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Letters to JMG:

Schimke immuno-osseous dysplasia: SMARCAL1 loss-of-function and phenotypic correlation

L I Elizondo, K S Cho, W Zhang, J Yan, C Huang, Y Huang, K Choi, E A Sloan, K Deguchi, S Lou, A Baradaran-Heravi, H Takashima, T Lücke, F A Quiocho, and C F Boerkoel

J Med Genet 2009; 46: 49-59.
Published Online First: 19 September 2008. doi:10.1136/jmg.2008.060095

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Six new coeliac disease loci replicated in an Italian population confirm association with coeliac disease

J Romanos, D Barisani, G Trynka, A Zhernakova, M T Bardella, and C Wijmenga

J Med Genet 2009; 46: 60-63.
Published Online First: 19 September 2008. doi:10.1136/jmg.2008.061457

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Miscellaneous:

Correction

J Med Genet 2009; 46: 72. doi:10.1136/jmg.2008.060442corr1

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Mutation reports:

NARP syndrome in a patient harbouring an insertion in the MT-ATP6 gene that results in a truncated protein

E López-Gallardo, A Solano, M D Herrero-Martín, Í Martínez-Romero, M D Castaño-Pérez, A L Andreu, A Herrera, M J López-Pérez, E Ruiz-Pesini, and J Montoya

J Med Genet 2009; 46: 64-67. doi:10.1136/jmg.2008.060616

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Familial occurrence of schwannomas and malignant rhabdoid tumour associated with a duplication in SMARCB1

J J Swensen, J Keyser, C M Coffin, J A Biegel, D H Viskochil, and M S Williams

J Med Genet 2009; 46: 68-72. doi:10.1136/jmg.2008.060152

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