Review:

Genetics of microtia and associated syndromes

F Alasti and G Van Camp

J Med Genet 2009; 46: 361-369.
Published Online First: 16 March 2009. doi:10.1136/jmg.2008.062158

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Original articles:

Large scale replication analysis of loci associated with lipid concentrations in a Japanese population

K Nakayama, T Bayasgalan, K Yamanaka, M Kumada, T Gotoh, N Utsumi, Y Yanagisawa, M Okayama, E Kajii, S Ishibashi, S Iwamoto, and The Jichi Community Genetics Team (JCOG)

J Med Genet 2009; 46: 370-374.
Published Online First: 11 March 2009. doi:10.1136/jmg.2008.064063

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Parkin and PINK1 mutations in early-onset Parkinson’s disease: comprehensive screening in publicly available cases and control

J Brooks, J Ding, J Simon-Sanchez, C Paisan-Ruiz, A B Singleton, and S W Scholz

J Med Genet 2009; 46: 375-381.
Published Online First: 6 April 2009. doi:10.1136/jmg.2008.063917

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Microdeletion 15q13.3: a locus with incomplete penetrance for autism, mental retardation, and psychiatric disorders

S Ben-Shachar, B Lanpher, J R German, M Qasaymeh, L Potocki, S C Sreenath Nagamani, L M Franco, A Malphrus, G W Bottenfield, J E Spence, S Amato, J A Rousseau, B Moghaddam, C Skinner, S A Skinner, S Bernes, N Armstrong, M Shinawi, P Stankiewicz, A Patel, S-W Cheung, J R Lupski, A L Beaudet, and T Sahoo

J Med Genet 2009; 46: 382-388.
Published Online First: 15 March 2009. doi:10.1136/jmg.2008.064378

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Clinical spectrum of SIX3-associated mutations in holoprosencephaly: correlation between genotype, phenotype and function

F Lacbawan, B D Solomon, E Roessler, K El-Jaick, S Domené, J I Vélez, N Zhou, D Hadley, J Z Balog, R Long, A Fryer, W Smith, S Omar, S D McLean, K Clarkson, A Lichty, N J Clegg, M R Delgado, E Levey, E Stashinko, L Potocki, M I VanAllen, J Clayton-Smith, D Donnai, D W Bianchi, P B Juliusson, P R Njølstad, H G Brunner, J C Carey, U Hehr, J Müsebeck, P F Wieacker, A Postra, R C M Hennekam, M-J H van den Boogaard, A van Haeringen, A Paulussen, J Herbergs, C T R M Schrander-Stumpel, A R Janecke, D Chitayat, J Hahn, D M McDonald-McGinn, E H Zackai, W B Dobyns, and M Muenke

J Med Genet 2009; 46: 389-398.
Published Online First: 2 April 2009. doi:10.1136/jmg.2008.063818

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Letters to JMG:

Recessive primary congenital lymphoedema caused by a VEGFR3 mutation

A Ghalamkarpour, W Holnthoner, P Saharinen, L M Boon, J B Mulliken, K Alitalo, and M Vikkula

J Med Genet 2009; 46: 399-404.
Published Online First: 15 March 2009. doi:10.1136/jmg.2008.064469

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Do mutations of the Pendred syndrome gene, SLC26A4, confer resistance to asthma and hypertension?

A C Madeo, A Manichaikul, S P Pryor, and A J Griffith

J Med Genet 2009; 46: 405-406.
Published Online First: 15 March 2009. doi:10.1136/jmg.2008.063610

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Mutations in the urocanase gene UROC1 are associated with urocanic aciduria

C Espinós, M Pineda, D Martínez-Rubio, V Lupo, A Ormazabal, M A Vilaseca, L J M Spaapen, F Palau, and R Artuch

J Med Genet 2009; 46: 407-411.
Published Online First: 19 March 2009. doi:10.1136/jmg.2008.060632

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Mutation reports:

A homozygous deletion of a normal variation locus in a patient with hearing loss from non-consanguineous parents

J Knijnenburg, S A J Lesnik Oberstein, K Frei, T Lucas, A C J Gijsbers, C A L Ruivenkamp, H J Tanke, and K Szuhai

J Med Genet 2009; 46: 412-417.
Published Online First: 25 February 2009. doi:10.1136/jmg.2008.063685

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Rhabdomyosarcoma in patients with constitutional mismatch-repair-deficiency syndrome

C P Kratz, S Holter, J Etzler, M Lauten, A Pollett, C M Niemeyer, S Gallinger, and K Wimmer

J Med Genet 2009; 46: 418-420.
Published Online First: 16 March 2009. doi:10.1136/jmg.2008.064212

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PostScript:

Refining the critical region of the novel 19q13.11 microdeletion syndrome to 750 Kb

J H M Schuurs-Hoeijmakers, S Vermeer, B W M van Bon, R Pfundt, C Marcelis, A P M de Brouwer, N de Leeuw, and Bert B A de Vries

J Med Genet 2009; 46: 421-423. doi:10.1136/jmg.2009.066910

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Change in stage distribution observed with annual screening for ovarian cancer in BRCA carriers

R Manchanda, A Rosenthal, M Burnell, L Fraser, J Mackay, and S Skates

J Med Genet 2009; 46: 423-424. doi:10.1136/jmg.2009.067462

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