The American Journal of Human Genetics

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Genomewide Linkage Disequilibrium Mapping of Severe Bipolar Disorder in a Population Isolate

Roel A. Ophoff, Michael A. Escamilla, Susan K. Service, Mitzi Spesny, more

The American Journal of Human Genetics > 2002 > 71 > 3 > 565-574

Genomewide association studies may offer the best promise for genetic mapping of complex traits. Such studies in outbred populations require very densely spaced single-nucleotide polymorphisms. In recently founded population isolates, however, extensive linkage disequilibrium (LD) may make these studies feasible with currently available sets of short tandem repeat markers, spaced at intervals as large...

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A Major Susceptibility Gene for Asthma Maps to Chromosome 14q24

Hakon Hakonarson, Unnur S. Bjornsdottir, Eva Halapi, Snaebjorn Palsson, more

The American Journal of Human Genetics > 2002 > 71 > 3 > 483-491

Asthma is a complex genetic disorder with a heterogeneous phenotype, largely attributed to the interactions among many genes and between these genes and the environment. Numerous loci and candidate genes have been reported to show linkage and association to asthma and atopy. Although some studies reporting these observations are compelling, no gene has been mapped that confers a sufficiently high...

article

Disorders of Voluntary Muscle

Francesco Muntoni

The American Journal of Human Genetics > 2002 > 71 > 3 > 687-688

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Contributions of 18 Additional DNA Sequence Variations in the Gene Encoding Apolipoprotein E to Explaining Variation in Quantitative Measures of Lipid Metabolism

Jari H. Stengård, Andrew G. Clark, Kenneth M. Weiss, Sharon Kardia, more

The American Journal of Human Genetics > 2002 > 71 > 3 > 501-517

Apolipoprotein E (ApoE) is a major constituent of many lipoprotein particles. Previous genetic studies have focused on six genotypes defined by three alleles, denoted ε2, ε3, and ε4, encoded by two variable exonic sites that segregate in most populations. We have reported studies of the distribution of alleles of 20 biallelic variable sites in the gene encoding the ApoE molecule within and among samples,...

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London Dysmorphology Database, London Neurogenetics Database & Dysmorphology Photo Library on CD-ROM

Harold N. Bass

The American Journal of Human Genetics > 2002 > 71 > 3 > 687

article

Reply to Veromann

Vanita Berry, Peter Francis, M. Ashwin Reddy, Dean Collyer, more

The American Journal of Human Genetics > 2002 > 71 > 3 > 685-686

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Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

Peter Hackman, Anna Vihola, Henna Haravuori, Sylvie Marchand, more

The American Journal of Human Genetics > 2002 > 71 > 3 > 492-500

Tibial muscular dystrophy (TMD) is an autosomal dominant late-onset distal myopathy linked to chromosome 2q31. The linked region includes the giant TTN gene, which encodes the central sarcomeric protein, titin. We have previously shown a secondary calpain-3 defect to be associated with TMD, which further underscored that titin is the candidate. We now report the first mutations in TTN to cause a human...

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Mutations in a Novel Gene, TMIE, Are Associated with Hearing Loss Linked to the DFNB6 Locus

Sadaf Naz, Chantal M. Giguere, David C. Kohrman, Kristina L. Mitchem, more

The American Journal of Human Genetics > 2002 > 71 > 3 > 632-636

We have identified five different homozygous recessive mutations in a novel gene, TMIE (transmembrane inner ear expressed gene), in affected members of consanguineous families segregating severe-to-profound prelingual deafness, consistent with linkage to DFNB6. The mutations include an insertion, a deletion, and three missense mutations, and they indicate that loss of function of TMIE causes hearing...

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KCNJ2 Mutation Results in Andersen Syndrome with Sex-Specific Cardiac and Skeletal Muscle Phenotypes

Gregor Andelfinger, Andrew R. Tapper, Richard C. Welch, Carlos G. Vanoye, more

The American Journal of Human Genetics > 2002 > 71 > 3 > 663-668

Evaluation of candidate loci culminated in the identification of a heterozygous missense mutation (R67W) in KCNJ2, the gene encoding the inward-rectifying potassium current, Kir2.1, in 41 members of a kindred in which ventricular arrhythmias (13 of 16 female members [81%]) and periodic paralysis (10 of 25 male members [40%]) segregated as autosomal dominant traits with sex-specific variable expressivity...

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Power Calculations for a General Class of Family-Based Association Tests: Dichotomous Traits

Christoph Lange, Nan M. Laird

The American Journal of Human Genetics > 2002 > 71 > 3 > 575-584

Using large-sample theory, we present a unified approach to power calculations for family-based association tests. Currently available methods for power calculations are restricted to special designs or require approximations or simulations. Our analytical approach to power calculations is broadly applicable in many settings. We discuss power calculations for two scenarios that have high practical...

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Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, the Gene Encoding Noggin*

David J. Brown, Theresa B. Kim, Elizabeth M. Petty, Catherine A. Downs, more

The American Journal of Human Genetics > 2002 > 71 > 3 > 618-624

Although fixation of the stapes is usually progressive and secondary to otosclerosis, it may present congenitally, with other skeletal manifestations, as an autosomal dominant syndrome—such as proximal symphalangism (SYM1) or multiple-synostoses syndrome (SYNS1), both of which are caused by mutations in NOG, the gene encoding noggin. We describe a family that was ascertained to have nonsyndromic otosclerosis...

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Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene

Eleonore Eymard-Pierre, Gaetan Lesca, Sandra Dollet, Filippo Maria Santorelli, more

The American Journal of Human Genetics > 2002 > 71 > 3 > 518-527

We studied 15 patients, from 10 families, who presented with severe spastic paralysis with an infantile onset and an ascending progression. Spastic paraplegia began during the first 2 years of life and extended to upper limbs within the next few years. During the first decade of life, the disease progressed to tetraplegia, anarthria, dysphagia, and slow eye movements. Overall, the disease was compatible...

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Identical Mitochondrial DNA Deletion in a Woman with Ocular Myopathy and in Her Son with Pearson Syndrome

Sara Shanske, Yingying Tang, Michio Hirano, Yutaka Nishigaki, more

The American Journal of Human Genetics > 2002 > 71 > 3 > 679-683

Single deletions of mitochondrial DNA (mtDNA) are associated with three major clinical conditions: Kearns-Sayre syndrome, a multisystem disorder; Pearson syndrome (PS), a disorder of the hematopoietic system; and progressive external ophthalmoplegia (PEO), primarily affecting the ocular muscles. Typically, single mtDNA deletions are sporadic events, since the mothers, siblings, and offspring of affected...

article

Evidence for the Role of PWCR1/HBII-85 C/D Box Small Nucleolar RNAs in Prader-Willi Syndrome

Renata C. Gallagher, Birgit Pils, Mohammed Albalwi, Uta Francke

The American Journal of Human Genetics > 2002 > 71 > 3 > 669-678

Prior work has suggested that loss of expression of one or more of the many C/D box small nucleolar RNAs (snoRNAs) encoded within the complex, paternally expressed SNRPN (small nuclear ribonuclear protein N) locus may result in the phenotype of Prader-Willi syndrome (PWS). We suggest that the minimal critical region for PWS is ∼121 kb within the >460-kb SNRPN locus, bordered by a breakpoint cluster...

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Family-Based Analysis Using a Dense Single-Nucleotide Polymorphism–Based Map Defines Genetic Variation at PSORS1, the Major Psoriasis-Susceptibility Locus

Colin D. Veal, Francesca Capon, Michael H. Allen, Emma K. Heath, more

The American Journal of Human Genetics > 2002 > 71 > 3 > 554-564

Psoriasis is a common skin disorder of multifactorial origin. Genomewide scans for disease susceptibility have repeatedly demonstrated the existence of a major locus, PSORS1 (psoriasis susceptibility 1), contained within the major histocompatibility complex (MHC), on chromosome 6p21. Subsequent refinement studies have highlighted linkage disequilibrium (LD) with psoriasis, along a 150-kb segment that...

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Announcements1 1. Announcements are published free of charge for members of The American Society of Human Genetics (ASHG). Please mail announcements to The American Journal of Human Genetics, Department of Human Genetics, Emory University School of Medicine, 615 Michael Street, Room 301, Atlanta, GA 30322-3050; fax them to (404) 712-9984; or send via E-mail to ajhg@emory.edu. Submission must be received at least 7 weeks before the month of issue in which publication is requested. They must be double spaced with a 1½-inch margin on all sides. The maximum length is 250 words, excluding the address for correspondence. Please include a cover letter indicating the name of the sponsoring ASHG member.

The American Journal of Human Genetics > 2002 > 71 > 3 > 689-692

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Visualizing Human Leukocyte Antigen Class II Risk Haplotypes in Human Systemic Lupus Erythematosus

Robert R. Graham, Ward A. Ortmann, Carl D. Langefeld, Damini Jawaheer, more

The American Journal of Human Genetics > 2002 > 71 > 3 > 543-553

Human leukocyte antigen (HLA) class I and class II alleles are implicated as genetic risk factors for many autoimmune diseases. However, the role of the HLA loci in human systemic lupus erythematosus (SLE) remains unclear. Using a dense map of polymorphic microsatellites across the HLA region in a large collection of families with SLE, we identified three distinct haplotypes that encompassed the class...

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Mutations in Two Genes Encoding Different Subunits of a Receptor Signaling Complex Result in an Identical Disease Phenotype

Juha Paloneva, Tuula Manninen, Grant Christman, Karine Hovanes, more

The American Journal of Human Genetics > 2002 > 71 > 3 > 656-662

Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy (PLOSL), also known as “Nasu-Hakola disease,” is a globally distributed recessively inherited disease leading to death during the 5th decade of life and is characterized by early-onset progressive dementia and bone cysts. Elsewhere, we have identified PLOSL mutations in TYROBP (DAP12), which codes for a membrane receptor...

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Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro-α1(V) N-Propeptides and Ehlers-Danlos Syndrome Type I

Kazuhiko Takahara, Ulrike Schwarze, Yasutada Imamura, Guy G. Hoffman, more

The American Journal of Human Genetics > 2002 > 71 > 3 > 451-465

Ehlers-Danlos syndrome (EDS) type I (the classical variety) is a dominantly inherited, genetically heterogeneous connective-tissue disorder. Mutations in the COL5A1 and COL5A2 genes, which encode type V collagen, have been identified in several individuals. Most mutations affect either the triple-helical domain of the protein or the expression of one COL5A1 allele. We identified a novel splice-acceptor...

article

Erratum

The American Journal of Human Genetics > 2002 > 71 > 3 > 693

INFONA - science communication portal

The American Journal of Human Genetics

Genomewide Linkage Disequilibrium Mapping of Severe Bipolar Disorder in a Population Isolate

A Major Susceptibility Gene for Asthma Maps to Chromosome 14q24

Disorders of Voluntary Muscle

Contributions of 18 Additional DNA Sequence Variations in the Gene Encoding Apolipoprotein E to Explaining Variation in Quantitative Measures of Lipid Metabolism

London Dysmorphology Database, London Neurogenetics Database & Dysmorphology Photo Library on CD-ROM

Reply to Veromann

Tibial Muscular Dystrophy Is a Titinopathy Caused by Mutations in TTN, the Gene Encoding the Giant Skeletal-Muscle Protein Titin

Mutations in a Novel Gene, TMIE, Are Associated with Hearing Loss Linked to the DFNB6 Locus

KCNJ2 Mutation Results in Andersen Syndrome with Sex-Specific Cardiac and Skeletal Muscle Phenotypes

Power Calculations for a General Class of Family-Based Association Tests: Dichotomous Traits

Autosomal Dominant Stapes Ankylosis with Broad Thumbs and Toes, Hyperopia, and Skeletal Anomalies Is Caused by Heterozygous Nonsense and Frameshift Mutations in NOG, the Gene Encoding Noggin*

Infantile-Onset Ascending Hereditary Spastic Paralysis Is Associated with Mutations in the Alsin Gene

Identical Mitochondrial DNA Deletion in a Woman with Ocular Myopathy and in Her Son with Pearson Syndrome

Evidence for the Role of PWCR1/HBII-85 C/D Box Small Nucleolar RNAs in Prader-Willi Syndrome

Family-Based Analysis Using a Dense Single-Nucleotide Polymorphism–Based Map Defines Genetic Variation at PSORS1, the Major Psoriasis-Susceptibility Locus

Visualizing Human Leukocyte Antigen Class II Risk Haplotypes in Human Systemic Lupus Erythematosus

Mutations in Two Genes Encoding Different Subunits of a Receptor Signaling Complex Result in an Identical Disease Phenotype

Order of Intron Removal Influences Multiple Splice Outcomes, Including a Two-Exon Skip, in a COL5A1 Acceptor-Site Mutation That Results in Abnormal Pro-α1(V) N-Propeptides and Ehlers-Danlos Syndrome Type I

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