Journal of Medical Genetics: 49 (6)

New disease loci

Original article: Clinical application of exome sequencing in undiagnosed genetic conditions (11 May, 2012)
Anna C Need, Vandana Shashi, Yuki Hitomi, Kelly Schoch, Kevin V Shianna, Marie T McDonald, Miriam H Meisler, David B Goldstein

Original article:
Indication for CDKN2A-mutation analysis in familial pancreatic cancer families without melanomas
(25 May, 2012)
Femme Harinck, Irma Kluijt, Nienke van der Stoep, Rogier A Oldenburg, Anja Wagner, Cora M Aalfs, Rolf H Sijmons, Jan-Werner Poley, Ernst J Kuipers, Paul Fockens, Theo A M van Os, Marco J Bruno

Original article:
Further delineation of the phenotype of chromosome 14q13 deletions: (positional) involvement of FOXG1 appears the main determinant of phenotype severity, with no evidence for a holoprosencephaly locus
(25 May, 2012)
Gijs W E Santen, Yu Sun, Antoinet C J Gijsbers, Aurore Carré, Maureen Holvoet, Arie van Haeringen, Saskia A J Lesnik Oberstein, Akemi Tomoda, Hiroyo Mabe, Michel Polak, Koenraad Devriendt, Claudia A L Ruivenkamp, Emilia K Bijlsma

Original article:
OTX2 mutations contribute to the otocephaly-dysgnathia complex
(10 May, 2012)
Nicolas Chassaing, Susanna Sorrentino, Erica E Davis, Dominique Martin-Coignard, Anthony Iacovelli, William Paznekas, Bryn D Webb, Ona Faye-Petersen, Férechté Encha-Razavi, Leopoldine Lequeux, Adeline Vigouroux, Ahmet Yesilyurt, Simeon A Boyadjiev, Hülya Kayserili, Philippe Loget, Dominique Carles, Consolato Sergi, Surasak Puvabanditsin, Chih-Ping Chen, Heather C Etchevers, Nicholas Katsanis, Catherine L Mercer, Patrick Calvas, Ethylin Wang Jabs
Short report:
Whole exome sequencing identifies a splicing mutation in NSUN2 as a cause of a Dubowitz-like syndrome
(10 May, 2012)
Fernando Jose Martinez, Jeong Ho Lee, Ji Eun Lee, Sandra Blanco, Elizabeth Nickerson, Stacey Gabriel, Michaela Frye, Lihadh Al-Gazali, Joseph G Gleeson
Short report:
A human laterality disorder associated with recessive CCDC11 mutation
(10 May, 2012)
Zeev Perles, Yuval Cinnamon, Asaf Ta-Shma, Avraham Shaag, Tom Einbinder, Azaria J J T Rein, Orly Elpeleg

Original article:
Novel mutations consolidate KCTD7 as a progressive myoclonus epilepsy gene
(12 June, 2012)
Maria Kousi, Verneri Anttila, Angela Schulz, Stella Calafato, Eveliina Jakkula, Erik Riesch, Liisa Myllykangas, Hannu Kalimo, Meral Topçu, Sarenur Gökben, Fusun Alehan, Johannes R Lemke, Michael Alber, Aarno Palotie, Outi Kopra, Anna-Elina Lehesjoki

Original article:
Intragenic CAMTA1 rearrangements cause non-progressive congenital ataxia with or without intellectual disability
(12 June, 2012)
Julien Thevenon, Estelle Lopez, Boris Keren, Delphine Heron, Cyril Mignot, Cecilia Altuzarra, Mylène Béri-Dexheimer, Céline Bonnet, Eloi Magnin, Lydie Burglen, Delphine Minot, Jacqueline Vigneron, Sophie Morle, Mathieu Anheim, Perrine Charles, Alexis Brice, Louise Gallagher, Jeanne Amiel, Emmanuel Haffen, Corinne Mach, Christel Depienne, Diane Doummar, Marlène Bonnet, Laurence Duplomb, Virginie Carmignac, Patrick Callier, Nathalie Marle, Anne-Laure Mosca-Boidron, Virginie Roze, Bernard Aral, Ferechte Razavi, Philippe Jonveaux, Laurence Faivre, Christel Thauvin-Robinet

Original article:
Delineation of CCDC39/CCDC40 mutation spectrum and associated phenotypes in primary ciliary dyskinesia
(12 June, 2012)
Sylvain Blanchon, Marie Legendre, Bruno Copin, Philippe Duquesnoy, Guy Montantin, Esther Kott, Florence Dastot, Ludovic Jeanson, Marine Cachanado, Alexandra Rousseau, Jean François Papon, Nicole Beydon, Jacques Brouard, Bruno Crestani, Antoine Deschildre, Julie Désir, Hélène Dollfus, Bruno Leheup, Aline Tamalet, Caroline Thumerelle, Anne-Marie Vojtek, Denise Escalier, André Coste, Jacques de Blic, Annick Clément, Estelle Escudier, Serge Amselem