Table of contents

Letters to the editor

• Mutations in cis can confound genotype-phenotype correlations in hypertrophic cardiomyopathy

  (1 June, 2001)

  Edward Blair, Simon J Price, Catherine J Baty, Ingegerd Östman-Smith, Hugh Watkins
• Identification of a large rearrangement of theBRCA1 gene using colour bar code on combed DNA in an American breast/ovarian cancer family previously studied by direct sequencing

  (1 June, 2001)

  Sophie Gad, Maren T Scheuner, Sabine Pages-Berhouet, Virginie Caux-Moncoutier, Aaron Bensimon, Alain Aurias, Mark Pinto, Dominique Stoppa-Lyonnet
• A unique form of autosomal dominant cataract explained by gene conversion between β-crystallin B2 and its pseudogene (1 June, 2001)

  Vanita, Virinder Sarhadi, André Reis, Martin Jung, Daljit Singh, Karl Sperling, Jai Rup Singh, Joachim Bürger
• Novel mutations of TMPRSS3 in four DFNB8/B10 families segregating congenital autosomal recessive deafness

  (1 June, 2001)

  Tamar Ben-Yosef, Marie Wattenhofer, Saima Riazuddin, Zubair M Ahmed, Hamish S Scott, Jun Kudoh, Kazunori Shibuya, Stylianos E Antonarakis, Batsheva Bonne-Tamir, Uppala Radhakrishna, Sadaf Naz, Zahoor Ahmed, Sheikh Riazuddin, Arti Pandya, Walter E Nance, Edward R Wilcox, Thomas B Friedman, Robert J Morell
• Increased risk of sensorineural hearing loss and migraine in patients with a rare mitochondrial DNA variant 4336A>G in tRNA^Gln

  (1 June, 2001)

  Saara Finnilä, Jaana Autere, Maarit Lehtovirta, Päivi Hartikainen, Arto Mannermaa, Hilkka Soininen, Kari Majamaa
• Split hand/split foot malformation associated with sensorineural deafness, inner and middle ear malformation, hypodontia, congenital vertical talus, and deletion of eight microsatellite markers in 7q21.1-q21.3 (1 June, 2001)

  Edda Haberlandt, Judith Löffler, Almut Hirst-Stadlmann, Bernd Stöckl, Werner Judmaier, Helmut Fischer, Peter Heinz-Erian, Thomas Müller, Gerd Utermann, Richard J H Smith, Andreas R Janecke
• A missense mutation in the SEDL gene results in delayed onset of X linked spondyloepiphyseal dysplasia in a large pedigree

  (1 June, 2001)

  E Grunebaum, E Arpaia, J J MacKenzie, J Fitzpatrick, P N Ray, C M Roifman
• Molecular characterisation of a new case of microphthalmia with linear skin defects (MLS) (1 June, 2001)

  Hülya Kayserili, Timothy C Cox, Liza L Cox, Seher Basaran, Gülleyla Kiliç, Andrea Ballabio, Memnune Yüksel-Apak
• Cryptic telomeric rearrangements in subjects with mental retardation associated with dysmorphism and congenital malformations (1 June, 2001)

  Elena Rossi, Flavia Piccini, Marcella Zollino, Giovanni Neri, Desirée Caselli, Romano Tenconi, Claudio Castellan, Romeo Carrozzo, Cesare Danesino, Orsetta Zuffardi, Angela Ragusa, Lucia Castiglia, Ornella Galesi, Donatella Greco, Corrado Romano, Mauro Pierluigi, Chiara Perfumo, Maia Di Rocco, Francesca Faravelli, Franca Dagna Bricarelli, MariaClara Bonaglia, MariaFrancesca Bedeschi, Renato Borgatti
• Laryngeal atresia, encephalocele, and limb deformities (LEL): a possible new syndrome (1 June, 2001)

  Karim D Kalache, Bianca Masturzo, Rosemary J Scott, Charles H Rodeck, Lyn S Chitty