Review articles

	Friedreich ataxia: an overview Martin B Delatycki, Robert Williamson, and Susan M Forrest J Med Genet 2000; 37: 1-8. doi:10.1136/jmg.37.1.1 [Abstract] [Full text] [PDF] [Request Permissions]
	The molecular genetics of Marfan syndrome and related microfibrillopathies Peter N Robinson and Maurice Godfrey J Med Genet 2000; 37: 9-25. doi:10.1136/jmg.37.1.9 [Abstract] [Full text] [PDF] [Request Permissions]

Original articles

	Evidence for digenic inheritance in some cases of Antley-Bixler syndrome? William Reardon, Anne Smith, John W Honour, Peter Hindmarsh, Debipriya Das, Gill Rumsby, Isabelle Nelson, Sue Malcolm, Lesley Adès, David Sillence, Dhavendra Kumar, Celia DeLozier-Blanchet, Shane McKee, Thaddeus Kelly, Wallace L McKeehan, Michael Baraitser, and Robin M Winter J Med Genet 2000; 37: 26-32. doi:10.1136/jmg.37.1.26 [Abstract] [Full text] [PDF] [Request Permissions]
	An HDR (hypoparathyroidism, deafness, renal dysplasia) syndrome locus maps distal to the DiGeorge syndrome region on 10p13/14 Peter Lichtner, Rainer König, Tomonobu Hasegawa, Hilde Van Esch, Thomas Meitinger, and Simone Schuffenhauer J Med Genet 2000; 37: 33-37. doi:10.1136/jmg.37.1.33 [Abstract] [Full text] [PDF] [Request Permissions]
	Prevalence of mitochondrial gene mutations among hearing impaired patients Shin-ichi Usami, Satoko Abe, Jiro Akita, Atsushi Namba, Hideichi Shinkawa, Masanori Ishii, Satoshi Iwasaki, Tomoyuki Hoshino, Juichi Ito, Katsumi Doi, Takeshi Kubo, Takashi Nakagawa, Sohtaro Komiyama, Tetsuya Tono, and Shizuo Komune J Med Genet 2000; 37: 38-40. doi:10.1136/jmg.37.1.38 [Abstract] [Full text] [PDF] [Request Permissions]
	Prevalent connexin 26 gene (GJB2) mutations in Japanese Satoko Abe, Shin-ichi Usami, Hideichi Shinkawa, Philip M Kelley, and William J Kimberling J Med Genet 2000; 37: 41-43. doi:10.1136/jmg.37.1.41 [Abstract] [Full text] [PDF] [Request Permissions]
	A search for evidence of somatic mutations in the NF1 gene Alison M John, Martino Ruggieri, Ros Ferner, and Meena Upadhyaya J Med Genet 2000; 37: 44-49. doi:10.1136/jmg.37.1.44 [Abstract] [Full text] [PDF] [Request Permissions]

Short reports

	A connexin 26 mutation causes a syndrome of sensorineural hearing loss and palmoplantar hyperkeratosis (MIM 148350) Kirsten Heathcote, Petros Syrris, Nicholas D Carter, and Michael A Patton J Med Genet 2000; 37: 50-51. doi:10.1136/jmg.37.1.50 [Abstract] [Full text] [PDF] [Request Permissions]
	Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type Laurence Faivre, Martine Le Merrer, André Megarbane, Brigitte Gilbert, Geert Mortier, Veronica Cusin, Arnold Munnich, Pierre Maroteaux, and Valérie Cormier-Daire J Med Genet 2000; 37: 52-54. doi:10.1136/jmg.37.1.52 [Abstract] [Full text] [PDF] [Request Permissions]
	Mutational analysis of the tuberous sclerosis gene TSC2 in patients with pulmonary lymphangioleiomyomatosis Aristotelis Astrinidis, Leena Khare, Thomas Carsillo, Teresa Smolarek, Kit-Sing Au, Hope Northrup, and Elizabeth Petri Henske J Med Genet 2000; 37: 55-57. doi:10.1136/jmg.37.1.55 [Abstract] [Full text] [PDF] [Request Permissions]
	Cryptic subtelomeric translocations in the 22q13 deletion syndrome Verayuth Praphanphoj, Barbara K Goodman, George H Thomas, and Gerald V Raymond J Med Genet 2000; 37: 58-61. doi:10.1136/jmg.37.1.58 [Abstract] [Full text] [PDF] [Request Permissions]

Letters to the editor

	Risk of multisystem disease in isolated ocular angioma (haemangioblastoma) ANDREW R WEBSTER, EAMONN R MAHER, ALAN C BIRD, and ANTHONY T MOORE J Med Genet 2000; 37: 62-63. doi:10.1136/jmg.37.1.62 [Extract] [Full text] [PDF] [Request Permissions]
	Confirmation of the assignment of the Sanjad-Sakati (congenital hypoparathyroidism) syndrome (OMIM 241410) locus to chromosome lq42-43 THADDEUS E KELLY, SUSAN BLANTON, RAMLA SAIF, SAMI A SANJAD, and NADIA A SAKATI J Med Genet 2000; 37: 63-64. doi:10.1136/jmg.37.1.63 [Extract] [Full text] [PDF] [Request Permissions]
	Molecular diagnosis is important to confirm suspected pseudoachondroplasia B NEWMAN, D DONNAI, and M D BRIGGS J Med Genet 2000; 37: 64-65. doi:10.1136/jmg.37.1.64 [Extract] [Full text] [PDF] [Request Permissions]
	Biallelic expression of IGFBP1 and IGFBP3, two candidate genes for the Silver-Russell syndrome EMMA L WAKELING, MEGAN P HITCHINS, SAYEDA N ABU-AMERO, PHILIP STANIER, GUDRUN E MOORE, and MICHAEL A PREECE J Med Genet 2000; 37: 65-67. doi:10.1136/jmg.37.1.65 [Extract] [Full text] [PDF] [Request Permissions]
	Mutational analysis of the human pancreatic secretory trypsin inhibitor (PSTI) gene in hereditary and sporadic chronic pancreatitis JIAN-MIN CHEN, BERNARD MERCIER, MARIE-PIERRE AUDREZET, and CLAUDE FEREC J Med Genet 2000; 37: 67-69. doi:10.1136/jmg.37.1.67 [Extract] [Full text] [PDF] [Request Permissions]
	A case of inv dup(8p) with early onset breast cancer M SELTMANN, P HARRINGTON, B A J PONDER, L R WILLATT, A C HEPPELL-PARTON, and H ANTON-CULVER J Med Genet 2000; 37: 70-71. doi:10.1136/jmg.37.1.70 [Extract] [Full text] [PDF] [Request Permissions]
	Appendiceal carcinoma complicating adenomatous polyposis in a young woman with a de novo constitutional reciprocal translocation t(5;8)(q22;p23.1) D KOOREY, N J BASHA, C TOMARAS, J FREIMAN, L ROBSON, and A SMITH J Med Genet 2000; 37: 71-75. doi:10.1136/jmg.37.1.71 [Extract] [Full text] [PDF] [Request Permissions]
	NF2 gene deletion in a family with a mild phenotype CATALINA LÓPEZ-CORREA, JESSICA ZUCMAN-ROSSI, HILDE BREMS, GILLES THOMAS, and ERIC LEGIUS J Med Genet 2000; 37: 75-77. doi:10.1136/jmg.37.1.75 [Extract] [Full text] [PDF] [Request Permissions]
	Absence of fragile X syndrome in Nova Scotia R G BERESFORD, C TATLIDIL, D C RIDDELL, J P WELCH, M D LUDMAN, P E NEUMANN, and W L GREER J Med Genet 2000; 37: 77-79. doi:10.1136/jmg.37.1.77 [Extract] [Full text] [PDF] [Request Permissions]