Journal of Medical Genetics: 51 (7)

Mitochondrial genetics

Original article:
ADAP2 in heart development: a candidate gene for the occurrence of cardiovascular malformations in NF1 microdeletion syndrome
(7 April, 2014)
Marco Venturin, Silvia Carra, Germano Gaudenzi, Silvia Brunelli, Guido Roberto Gallo, Silvia Moncini, Franco Cotelli, Paola Riva
Original article:
A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma
(15 April, 2014)
Muhammad Ajmal, Muhammad Imran Khan, Kornelia Neveling, Yar Muhammad Khan, Maleeha Azam, Nadia Khalida Waheed, Christian P Hamel, Tamar Ben-Yosef, Elfride De Baere, Robert K Koenekoop, Rob W J Collin, Raheel Qamar, Frans P M Cremers

Original article: Early postzygotic mutations contribute to de novo variation in a healthy monozygotic twin pair (24 April, 2014)
Gülşah M Dal, Bekir Ergüner, Mahmut S Sağıroğlu, Bayram Yüksel, Onur Emre Onat, Can Alkan, Tayfun Özçelik

Original article: A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome (29 April, 2014)
Samer Khateb, Lina Zelinger, Liliana Mizrahi-Meissonnier, Carmen Ayuso, Robert K Koenekoop, Uri Laxer, Menachem Gross, Eyal Banin, Dror Sharon
Short report: Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia (4 April, 2014)
Amanda C Smith, Alan J Mears, Ryan Bunker, Afsana Ahmed, Malcolm MacKenzie, Jeremy A Schwartzentruber, Chandree L Beaulieu, Emanuela Ferretti, FORGE Canada Consortium, Jacek Majewski, Dennis E Bulman, Fatma Cakmak Celik, Kym M Boycott, Gail E Graham
Short report:
A novel stop mutation in the vascular endothelial growth factor-C gene (VEGFC) results in Milroy-like disease
(17 April, 2014)
Emilia Balboa-Beltran, María J Fernández-Seara, Alejandro Pérez-Muñuzuri, Ramón Lago, Carlos García-Magán, María L Couce, Beatriz Sobrino, Jorge Amigo, Angel Carracedo, Francisco Barros

Original article: Prediction of the age at onset in spinocerebellar ataxia type 1, 2, 3 and 6 (29 April, 2014)
Sophie Tezenas du Montcel, Alexandra Durr, Maria Rakowicz, Lorenzo Nanetti, Perrine Charles, Anna Sulek, Caterina Mariotti, Rafal Rola, Ludger Schols, Peter Bauer, Isabelle Dufaure-Garé, Heike Jacobi, Sylvie Forlani, Tanja Schmitz-Hübsch, Alessandro Filla, Dagmar Timmann, Bart P van de Warrenburg, Cecila Marelli, Jun-Suk Kang, Paola Giunti, Arron Cook, Laszlo Baliko, Melegh Bela, Sylvia Boesch, Sandra Szymanski, José Berciano, Jon Infante, Katrin Buerk, Marcella Masciullo, Roberto Di Fabio, Chantal Depondt, Susanne Ratka, Giovanni Stevanin, Thomas Klockgether, Alexis Brice, Jean-Louis Golmard

Original article:
Involvement of the kinesin family members KIF4A and KIF5C in intellectual disability and synaptic function
(8 May, 2014) Free
Marjolein H Willemsen, Wei Ba, Willemijn M Wissink-Lindhout, Arjan P M de Brouwer, Stefan A Haas, Melanie Bienek, Hao Hu, Lisenka E L M Vissers, Hans van Bokhoven, Vera Kalscheuer, Nael Nadif Kasri, Tjitske Kleefstra