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Online Mendelian Inheritance In Man (OMIM) is a public database of bibliographic information about human genes and genetic disorders. Begun by Dr. Victor McKusick as the authoritative reference Mendelian Inheritance in Man, it is now distributed electronically by the National Center for Biotechnology Information (NCBI). Material in OMIM is derived from the biomedical literature and is written by Dr. McKusick and his colleagues at Johns Hopkins University and elsewhere. Each OMIM entry has a full text summary of a genetic phenotype and/or gene and has copious links to other genetic resources such as DNA and protein sequence, PubMed references, mutation databases, approved gene nomenclature, and more. In addition, NCBI's neighboring feature allows users to identify related articles from PubMed selected on the basis of key words in the OMIM entry. Through its many features, OMIM is increasingly becoming a major gateway for clinicians, students, and basic researchers to the ever‐growing literature and resources of human genetics. Hum Mutat 15:57–61, 2000. © 2000 Wiley‐Liss, Inc.

Troyer syndrome (TRS) is an autosomal recessive complicated hereditary spastic paraplegia (HSP) that occurs with high frequency in the Old Order Amish. We report mapping of the TRS locus to chromosome 13q12.3 and identify a frameshift mutation in SPG20 , encoding spartin. Comparative sequence analysis indicates that spartin shares similarity with molecules involved in endosomal trafficking and with spastin, a molecule implicated in microtubule interaction that is commonly mutated in HSP.

The genetic revolution has provided incredibly valuable information about our DNA, information that can be used to benefit and inform—but also to judge, discriminate, and abuse. An essential reference for living in today's world, this book gives the background information critical to understanding how genetics is now affecting our everyday lives. Written in clear, lively language, it gives a comprehensive view of exciting recent discoveries and explores the ethical, legal, and social issues that have arisen with each new development.

John Hilton Edwards, formerly Professor of Genetics at Oxford University, passed away on Oct 11, 2007. Over the last 50 years, he was an important contributor to human genetics in a variety of areas, particularly linkage mapping, allelic association with disease predisposition and comparative gene mapping.

Genetic studies often involve the cooperation of large numbers of affected persons and their families. The discovery of the gene that, when mutated, causes a form of dwarfism (Ellis-van Creveld syndrome) has been accelerated through a collaborative effort between geneticists and the Old Order Amish, of Lancaster County, Pennsylvania.

On 2 February 2000, OMIM reached 1,000 gene entries containing at least one allelic variant (AV) identified as the cause of, or associated with, a recognizable human phenotype. OMIM, the on-line version of Mendelian Inheritance in Man, is a catalogue of human genes and genetic disorders that aims to be comprehensive, authoritative and timely. It is based on the periodical biomedical literature, and has been authored since the early 1960s and available on-line since 1987 (http://www.ncbi.nlm.nih.gov/omim). The cataloguing of AVs as subentries of gene entries was initiated in 1988. Each AV subentry is given a unique 10-digit number: the 6-digit number of the gene followed by 4 digits, beginning with 0.0001 for the first AV. An effort has been made to list at least one AV for every gene with disease-related mutations, but only selected additional AVs are included according to the following criteria: (i) the first or first few AVs reported; (ii) common mutations in particular populations, such as the BRCA1 mutation in Ashkenazi Jews (113705.0003); (iii) mutations in a gene causing different disorders, for example RET, causing Hirschsprung disease (164761.0014), multiple endocrine neoplasia type IIA (164761.0001) or type IIB (164761.0013) and familial medullary thyroid carcinoma (164766.0025); (iv) mutations in the same gene causing a phenotype with different modes of inheritance, such as recessive (139250.0001) or dominant (139250.0007) isolated growth hormone deficiency; (v) regulatory mutations such as that in the promoter in androgen-sensitive haemophilia B (306900.0001); 4 unusual mutation mechanisms such as the LINE insertion in F8C (306700.0022); (vii) distinctive types of mutation, such as the partial inversion of F8C in severe haemophilia A (306700.0067); or (viii) mutations in historical pedigrees, such as the Peutz-Jeghers syndrome pedigree reported in 1921 (602216.0014). OMIM has 450 entries with 5 or more AVs, 210 with 10 or more, 5 with 100 or more, and only 1 with more than 300, the HBB entry (141900).

We describe a new dysmorphic syndrome in an inbred Saudi Arabian family with 21 members. Five males and one female have similar craniofacial features including wide open calvarial sutures with large and late-closing anterior fontanels, frontal bossing, hyperpigmentation with capillary hemangioma of the forehead, significant hypertelorism, and a broad and prominent nose. In addition, these individuals have Y-shaped sutural cataracts diagnosed by 1-2 years of age. No chromosomal or biochemical abnormalities were identified. A genome-wide scan was performed, and two-point LOD score analysis, assuming autosomal recessive inheritance, detected linkage to chromosome 14q13-q21. The highest LOD scores were obtained for marker GATA136A04 (LOD=4.58 at theta=0.00) and for the adjacent telomeric marker D14S1048 (LOD=4.32 at theta=0.00). Multipoint linkage analysis resulted in a maximum LOD score of 5.44 between markers D14S1048 and GATA136A04. Model independent analysis by SIBPAL confirmed linkage to the same chromosomal region. Haplotype analysis indicated that all affected individuals were homozygous for the interval on chromosome 14q13-q21 with two recombinants for D14S1014 (centromeric) and one recombinant for D14S301 (telomeric). These recombinations limit the disease locus to a region of approximately 7.26 Mb. Candidate genes localized to this region were identified, and analysis of PAX9 did not identify mutations in these patients. The unique clinical phenotype and the mapping data suggest that this family represents a novel autosomal recessive syndrome.

The identification of a \"Marfan gene\" is in part a triumph for gene mapping. Definitions of the gene lesions responsible for the system should permit the design of definitive diagnostic tests. The possibility that Abraham Lincoln had Marfan syndrome is explored.

Although clinical trials of autologous whole bone marrow for cardiac repair demonstrate promising results, many practical and mechanistic issues regarding this therapy remain highly controversial. Here, we report the results of a randomized study of bone-marrow-derived mesenchymal stem cells, administered to pigs, which offer several new insights regarding cellular cardio-myoplasty. First, cells were safely injected by using a percutaneous-injection catheter 3 d after myocardial infarction. Second, cellular transplantation resulted in long-term engraftment, profound reduction in scar formation, and near-normalization of cardiac function. Third, transplanted cells were preprepared from an allogeneic donor and were not rejected, a major practical advance for widespread application of this therapy. Together, these findings demonstrate that the direct injection of cellular grafts into damaged myocardium is safe and effective in the periinfarct period. The direct delivery of cells to necrotic myocardium offers a valuable alternative to intracoronary cell injections, and the use of allogeneic mesenchymal stem cells provides a valuable strategy for cardiac regenerative therapy that avoids the need for preparing autologous cells from the recipient.

The dramatic increase in the amount of genomic information will have a tremendous impact on biomedical research and on the way that medicine is practiced. Initial analyses of the completed chromosomal sequences suggest that the number of human genes is lower than expected.