Genetic screening / counselling

A syndrome of congenital hyperinsulinism and rhabdomyolysis is caused by KCNJ11 mutation
Mamdouh Albaqumi, Fatimah A Alhabib, Hanan E Shamseldin, Firdous Mohammed, Fowzan S Alkuraya

Journal of Medical Genetics Apr 2014, 51 (4) 271-274; DOI: 10.1136/jmedgenet-2013-102085
POMK mutation in a family with congenital muscular dystrophy with merosin deficiency, hypomyelination, mild hearing deficit and intellectual disability
Anja von Renesse, Mina V Petkova, Susanne Lützkendorf, Jan Heinemeyer, Esther Gill, Christoph Hübner, Arpad von Moers, Werner Stenzel, Markus Schuelke

Journal of Medical Genetics Apr 2014, 51 (4) 275-282; DOI: 10.1136/jmedgenet-2013-102236
The HNF4A R76W mutation causes atypical dominant Fanconi syndrome in addition to a β cell phenotype
Alexander J Hamilton, Coralie Bingham, Timothy J McDonald, Paul R Cook, Richard C Caswell, Michael N Weedon, Richard A Oram, Beverley M Shields, Maggie Shepherd, Carol D Inward, Julian P Hamilton-Shield, Jürgen Kohlhase, Sian Ellard, Andrew T Hattersley

Journal of Medical Genetics Mar 2014, 51 (3) 165-169; DOI: 10.1136/jmedgenet-2013-102066
Mutations in SDHD lead to autosomal recessive encephalomyopathy and isolated mitochondrial complex II deficiency
Christopher Benjamin Jackson, Jean-Marc Nuoffer, Dagmar Hahn, Holger Prokisch, Birgit Haberberger, Matthias Gautschi, Annemarie Häberli, Sabina Gallati, André Schaller

Journal of Medical Genetics Mar 2014, 51 (3) 170-175; DOI: 10.1136/jmedgenet-2013-101932
Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome
Tomohiro Chiyonobu, Norimitsu Inoue, Masafumi Morimoto, Taroh Kinoshita, Yoshiko Murakami

Journal of Medical Genetics Mar 2014, 51 (3) 203-207; DOI: 10.1136/jmedgenet-2013-102156
Spectrum of RB1 mutations identified in 403 retinoblastoma patients
Elizabeth A Price, Kelly Price, Kelly Kolkiewicz, Simon Hack, M Ashwin Reddy, John L Hungerford, Judith E Kingston, Zerrin Onadim

Journal of Medical Genetics Mar 2014, 51 (3) 208-214; DOI: 10.1136/jmedgenet-2013-101821
Exome sequencing of Bardet–Biedl syndrome patient identifies a null mutation in the BBSome subunit BBIP1 (BBS18)
Sophie Scheidecker, Christelle Etard, Nathan W Pierce, Véronique Geoffroy, Elise Schaefer, Jean Muller, Kirsley Chennen, Elisabeth Flori, Valérie Pelletier, Olivier Poch, Vincent Marion, Corinne Stoetzel, Uwe Strähle, Maxence V Nachury, Hélène Dollfus

Journal of Medical Genetics Feb 2014, 51 (2) 132-136; DOI: 10.1136/jmedgenet-2013-101785
KIF1C mutations in two families with hereditary spastic paraparesis and cerebellar dysfunction
Talya Dor, Yuval Cinnamon, Laure Raymond, Avraham Shaag, Naima Bouslam, Ahmed Bouhouche, Marion Gaussen, Vincent Meyer, Alexandra Durr, Alexis Brice, Ali Benomar, Giovanni Stevanin, Markus Schuelke, Simon Edvardson

Journal of Medical Genetics Feb 2014, 51 (2) 137-142; DOI: 10.1136/jmedgenet-2013-102012
Fanconi anaemia, BRCA2 mutations and childhood cancer: a developmental perspective from clinical and epidemiological observations with implications for genetic counselling
Stefan Meyer, Marc Tischkowitz, Kate Chandler, Alan Gillespie, Jillian M Birch, D Gareth Evans

Journal of Medical Genetics Feb 2014, 51 (2) 71-75; DOI: 10.1136/jmedgenet-2013-101642
A type I interferon signature identifies bilateral striatal necrosis due to mutations in ADAR1
John H Livingston, Jean-Pierre Lin, Russell C Dale, Deepak Gill, Paul Brogan, Arnold Munnich, Manju A Kurian, Victoria Gonzalez-Martinez, Christian G E L De Goede, Alastair Falconer, Gabriella Forte, Emma M Jenkinson, Paul R Kasher, Marcin Szynkiewicz, Gillian I Rice, Yanick J Crow

Journal of Medical Genetics Feb 2014, 51 (2) 76-82; DOI: 10.1136/jmedgenet-2013-102038

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