Journal of Medical Genetics: 51 (5)

Cancer genetics

Guidelines for surveillance of individuals with constitutional mismatch repair-deficiency proposed by the European Consortium “Care for CMMR-D” (C4CMMR-D) (20 February, 2014) Free
H F A Vasen, Z Ghorbanoghli, F Bourdeaut, O Cabaret, O Caron, A Duval, N Entz-Werle, Y Goldberg, D Ilencikova, C P Kratz, N Lavoine, J Loeffen, F H Menko, M Muleris, G Sebille, C Colas, B Burkhardt, L Brugieres, K Wimmer, on behalf of the EU-Consortium Care for CMMR-D (C4CMMR-D)
Original article:
Expanding the phenotype of mutations in DICER1: mosaic missense mutations in the RNase IIIb domain of DICER1 cause GLOW syndrome
(27 March, 2014)
Steven Klein, Hane Lee, Shahnaz Ghahremani, Pamela Kempert, Mariam Ischander, Michael A Teitell, Stanley F Nelson, Julian A Martinez-Agosto

Short report:
VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)
(27 February, 2014)
Miora Feinstein, Hagit Flusser, Tally Lerman-Sagie, Bruria Ben-Zeev, Dorit Lev, Orly Agamy, Idan Cohen, Rotem Kadir, Sara Sivan, Esther Leshinsky-Silver, Barak Markus, Ohad S Birk

Original article:
CGG allele size somatic mosaicism and methylation in FMR1 premutation alleles
(3 March, 2014)
Dalyir I Pretto, Guadalupe Mendoza-Morales, Joyce Lo, Ru Cao, Andrew Hadd, Gary J Latham, Blythe Durbin-Johnson, Randi Hagerman, Flora Tassone

Original article: Mapping of hepatic expression quantitative trait loci (eQTLs) in a Han Chinese population (24 March, 2014)
Xiaoliang Wang, Huamei Tang, Mujian Teng, Zhiqiang Li, Jianguo Li, Junwei Fan, Lin Zhong, Xing Sun, Junming Xu, Guoqing Chen, Dawei Chen, Zhaowen Wang, Tonghai Xing, Jinyan Zhang, Li Huang, Shuyun Wang, Xiao Peng, Shengying Qin, Yongyong Shi, Zhihai Peng
Original article: Genome-wide association study of smoking behaviours among Bangladeshi adults (24 March, 2014)
Maria Argos, Lin Tong, Brandon L Pierce, Muhammad Rakibuz-Zaman, Alauddin Ahmed, Tariqul Islam, Mahfuzar Rahman, Rachelle Paul-Brutus, Ronald Rahaman, Shantanu Roy, Farzana Jasmine, Muhammad G Kibriya, Habibul Ahsan
Original article: Genome-wide association study identifies new disease loci for isolated clubfoot (25 March, 2014)
Tian-Xiao Zhang, Gabe Haller, Peng Lin, David M Alvarado, Jacqueline T Hecht, Susan H Blanton, B Stephens Richards, John P Rice, Matthew B Dobbs, Christina A Gurnett

Original article:
A comprehensive association analysis confirms ZMIZ1 to be a susceptibility gene for vitiligo in Chinese population
(25 March, 2014)
Yonghu Sun, Xianbo Zuo, Xiaodong Zheng, Fusheng Zhou, Bo Liang, Hong Liu, Ruixue Chang, Jinping Gao, Yujun Sheng, Hongzhou Cui, Wenjun Wang, Anand Kumar Andiappan, Olaf Rotzschke, Sen Yang, Liangdan Sun, Furen Zhang, Xuejun Zhang, Yunqing Ren, Jianjun Liu

Correspondence: Heterozygous mutations in the T (brachyury) gene (20 February, 2014)
Philip F Giampietro, Cathy L Raggio, Robert D Blank