JMG Online mutation reports

Prevalence of rare mitochondrial DNA mutations in mitochondrial disorders

Sylvie Bannwarth, Vincent Procaccio, Anne Sophie Lebre, Claude Jardel, Annabelle Chaussenot, Claire Hoarau, Hassani Maoulida, Nathanaël Charrier, Xiaowu Gai, Hongbo M Xie, Marc Ferre, Konstantina Fragaki, Gaëlle Hardy, Bénédicte Mousson de Camaret, Sandrine Marlin, Claire Marie Dhaenens, Abdelhamid Slama, Christophe Rocher, Jean Paul Bonnefont, Agnès Rötig, Nadia Aoutil, Mylène Gilleron, Valérie Desquiret-Dumas, Pascal Reynier, Jennifer Ceresuela, Laurence Jonard, Aurore Devos, Caroline Espil-Taris, Delphine Martinez, Pauline Gaignard, Kim-Hanh Le Quan Sang, Patrizia Amati-Bonneau, Marni J Falk, Catherine Florentz, Brigitte Chabrol, Isabelle Durand-Zaleski, Véronique Paquis-Flucklinger

10.1136/jmedgenet-2013-101604

July 11, 2013

A homozygous nonsense mutation (c.214C→A) in the biliverdin reductase alpha gene (BLVRA) results in accumulation of biliverdin during episodes of cholestasis

Nikolaj S Nytofte, Maria A Serrano, Maria J Monte, Ester Gonzalez-Sanchez, Zeynep Tumer, Karin Ladefoged, Oscar Briz, Jose J G Marin

10.1136/jmg.2009.074567

January 28, 2011

DICER1 syndrome: clarifying the diagnosis, clinical features and management implications of a pleiotropic tumour predisposition syndrome

Ingrid Slade, Chiara Bacchelli, Helen Davies, Anne Murray, Fatemeh Abbaszadeh, Sandra Hanks, Rita Barfoot, Amos Burke, Julia Chisholm, Martin Hewitt, Helen Jenkinson, Derek King, Bruce Morland, Barry Pizer, Katrina Prescott, Anand Saggar, Lucy Side, Heidi Traunecker, Sucheta Vaidya, Paul Ward, P Andrew Futreal, Gordan Vujanic, Andrew G Nicholson, Neil Sebire, Clare Turnbull, John R Priest, Kathryn Pritchard-Jones, Richard Houlston, Charles Stiller, Michael R Stratton, Jenny Douglas, Nazneen Rahman

10.1136/jmg.2010.083790

January 25, 2011

Identification of new mutations in the ETHE1 gene in a cohort of 14 patients presenting with ethylmalonic encephalopathy

R Mineri, M Rimoldi, A B Burlina, S Koskull, C Perletti, B Heese, U von Döbeln, P Mereghetti, I Di Meo, F Invernizzi, M Zeviani, G Uziel, V Tiranti

10.1136/jmg.2008.058271

July 1, 2008

Molecular analysis of digenic inheritance in Bartter syndrome with sensorineural deafness

K Nozu, T Inagaki, X J Fu, Y Nozu, H Kaito, K Kanda, T Sekine, T Igarashi, K Nakanishi, N Yoshikawa, K Iijima, M Matsuo

10.1136/jmg.2007.052944

February 29, 2008

Further pitfalls in the diagnosis of mtDNA mutations: homoplasmic mt-tRNA mutations

H A L Tuppen, F Fattori, R Carrozzo, M Zeviani, S DiMauro, S Seneca, J E Martindale, S E Olpin, E P Treacy, R McFarland, F M Santorelli, R W Taylor

10.1136/jmg.2007.051185

January 4, 2008

Diversity of the basic defect of homozygous CFTR mutation genotypes in humans

F Stanke, M Ballmann, I Bronsveld, T Dörk, S Gallati, U Laabs, N Derichs, M Ritzka, H-G Posselt, H K Harms, M Griese, H Blau, G Mastella, J Bijman, H Veeze, B Tümmler

10.1136/jmg.2007.053561

January 4, 2008

Deletions of NF1 gene and exons detected by multiplex ligation-dependent probe amplification

A De Luca, I Bottillo, M C Dasdia, A Morella, V Lanari, L Bernardini, L Divona, S Giustini, L Sinibaldi, A Novelli, I Torrente, A Schirinzi, B Dallapiccola

10.1136/jmg.2007.053785

November 30, 2007

The T/G−13915 variant upstream of the lactase gene (LCT) is the founder allele of lactase persistence in an urban Saudi population

F Imtiaz, E Savilahti, A Sarnesto, D Trabzuni, K Al-Kahtani, I Kagevi, M S Rashed, B F Meyer, I Järvelä

10.1136/jmg.2007.051631

October 2, 2007

New PPARG mutation leads to lipodystrophy and loss of protein function that is partially restored by a synthetic ligand

Angelika Lüdtke, Janine Buettner, Hartmut H-J Schmidt, Howard J Worman

10.1136/jmg.2007.050567

August 31, 2007