Genetic screening / counselling

A missense mutation in the splicing factor gene DHX38 is associated with early-onset retinitis pigmentosa with macular coloboma
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

Journal of Medical Genetics Jul 2014, 51 (7) 444-448; DOI: 10.1136/jmedgenet-2014-102316
A homozygous nonsense CEP250 mutation combined with a heterozygous nonsense C2orf71 mutation is associated with atypical Usher syndrome
Samer Khateb, Lina Zelinger, Liliana Mizrahi-Meissonnier, Carmen Ayuso, Robert K Koenekoop, Uri Laxer, Menachem Gross, Eyal Banin, Dror Sharon

Journal of Medical Genetics Jul 2014, 51 (7) 460-469; DOI: 10.1136/jmedgenet-2014-102287
Mutations in the enzyme glutathione peroxidase 4 cause Sedaghatian-type spondylometaphyseal dysplasia
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

Journal of Medical Genetics Jul 2014, 51 (7) 470-474; DOI: 10.1136/jmedgenet-2013-102218
Mutation in KANK2, encoding a sequestering protein for steroid receptor coactivators, causes keratoderma and woolly hair
Yuval Ramot, Vered Molho-Pessach, Tomer Meir, Ruslana Alper-Pinus, Ihab Siam, Spiro Tams, Sofia Babay, Abraham Zlotogorski

Journal of Medical Genetics Jun 2014, 51 (6) 388-394; DOI: 10.1136/jmedgenet-2014-102346
VPS53 mutations cause progressive cerebello-cerebral atrophy type 2 (PCCA2)
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

Journal of Medical Genetics May 2014, 51 (5) 303-308; DOI: 10.1136/jmedgenet-2013-101823
Mapping of hepatic expression quantitative trait loci (eQTLs) in a Han Chinese population
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

Journal of Medical Genetics May 2014, 51 (5) 319-326; DOI: 10.1136/jmedgenet-2013-102045
Heterozygous mutations in the T (brachyury) gene
Philip F Giampietro, Cathy L Raggio, Robert D Blank

Journal of Medical Genetics May 2014, 51 (5) 354; DOI: 10.1136/jmedgenet-2014-102308
NECAP1 loss of function leads to a severe infantile epileptic encephalopathy
Anas M Alazami, Hadia Hijazi, Amal Y Kentab, Fowzan S Alkuraya

Journal of Medical Genetics Apr 2014, 51 (4) 224-228; DOI: 10.1136/jmedgenet-2013-102030
Truncating mutations in TAF4B and ZMYND15 causing recessive azoospermia
Özgecan Ayhan, Mahmut Balkan, Ayse Guven, Renin Hazan, Murat Atar, Atalay Tok, Aslıhan Tolun

Journal of Medical Genetics Apr 2014, 51 (4) 239-244; DOI: 10.1136/jmedgenet-2013-102102
Conotruncal malformations and absent thymus due to a deleterious NKX2-6 mutation
Asaf Ta-Shma, Nael El-lahham, Simon Edvardson, Polina Stepensky, Amiram Nir, Zeev Perles, Sagui Gavri, Julius Golender, Nurit Yaakobi-Simhayoff, Avraham Shaag, Azaria J J T Rein, Orly Elpeleg

Journal of Medical Genetics Apr 2014, 51 (4) 268-270; DOI: 10.1136/jmedgenet-2013-102100

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