Clinical and molecular delineation of the 17q21.31 microdeletion syndrome

Background: The chromosome 17q21.31 microdeletion syndrome is a novel genomic disorder that has originally been identified using high resolution genome analyses in patients with unexplained mental retardation. Aim: We report the molecular and/or clinical characterisation of 22 individuals with the 17q21.31 microdeletion syndrome. Results: We estimate the prevalence of the syndrome to be 1 in 16 000 and show that it is highly underdiagnosed. Extensive clinical examination reveals that developmental delay, hypotonia, facial dysmorphisms including a long face, a tubular or pear-shaped nose and a bulbous nasal tip, and a friendly/amiable behaviour are the most characteristic features. Other clinically important features include epilepsy, heart defects and kidney/urologic anomalies. Using high resolution oligonucleotide arrays we narrow the 17q21.31 critical region to a 424 kb genomic segment (chr17: 41046729-41470954, hg17) encompassing at least six genes, among which is the gene encoding microtubule associated protein tau (MAPT). Mutation screening of MAPT in 122 individuals with a phenotype suggestive of 17q21.31 deletion carriers, but who do not carry the recurrent deletion, failed to identify any disease associated variants. In five deletion carriers we identify a <500 bp rearrangement hotspot at the proximal breakpoint contained within an L2 LINE motif and show that in every case examined the parent originating the deletion carries a common 900 kb 17q21.31 inversion polymorphism, indicating that this inversion is a necessary factor for deletion to occur (p< 10(25)). Conclusion: Our data establish the 17q21.31 microdeletion syndrome as a clinically and molecularly well recognisable genomic disorder.

Mary E. Frayser Papers - Accession 1

The Mary E. Frayser Papers consists of correspondence, speeches, reports, clippings, minutes, histories, family histories, constitutions and bylaws, membership lists, program notes, photographs, and other papers, relating to her work with the South Carolina Extension Service (1912-1940) Winthrop College, her involvement with the South Carolina Council for the Common Good (1935-1952), the South Carolina Federation of Women’s Clubs (1926-1952), the South Carolina Status of Women Conference (1945-1952), the South Carolina Division of the American Association of University Women (AAUW) (1929, 1935-1949), the South Carolina Interracial Institute (1938-1942), the South Carolina Division of the Southern Regional Council (1944-1951), and the South Carolina Conference of Social Work (1936-1967). There are also papers relating to Frayser’s efforts to promote social and economic legislation and participation by women in public affairs and her interest in libraries and work in the movement for the support of public libraries in South Carolina (1925-1968). Correspondents included G.H. Aault, Evan Chesterman, Wil Lou Gray, Sarah Hughes, Christine South Gee, and Maude Massey Rogers. This collection is a good source of women’s club activities in the twentieth century. Important areas of research would include the way club activity affected social and economic legislation in the state and the various forces involved in the movement for state tax supported libraries. While the papers do range from 1841 to 1953, the greater bulk of the papers extend from the early 1930s to about 1947. Since the work of the various women's club organizations were so inter-related, a researcher working with the papers of a particular organization for a particular time span should consider the Frayser papers of all other organizations. The related papers for the “Correspondence and Related Papers” series for particular organizations are generally similar and include: memoranda, outlines, reports, resolutions, minutes, etc. Additional Frayser information can be found by referring to the Winthrop University Archives (official records).

Martha Thomas Fitzgerald Papers - Accession 273

The Martha Thomas Fitzgerald Papers consist of biographical data, correspondence, minutes, newspaper clippings, memoranda, reports, and photographs (of particular interest are the many photographs of rural S.C. school houses in the 1920s). The collection pertains to Mrs. Fitzgerald’s work with the South Carolina Department of Education, the South Carolina House of Representatives, and her work with various civic organizations such as the Altrusa Club, the League of Women Voters, the Daughters of American Colonists, United Daughters of the Confederacy (UDC), Business and Professional Women’s Club (BPW), Delta Kappa Gamma, South Carolina Vocational Rehabilitation, and the Salvation Army. There is also information on the Status of Women Commission Council on Aging, agriculture, Queens College, University of South Carolina, Winthrop University, Columbia University, public health, South Carolina history, City of Columbia, South Carolina, and Richland County, South Carolina. Correspondents include Strom Thurmond and three letters from John F. Kennedy when he was senator. Mrs. Fitzgerald was the first woman elected to the South Carolina House of Representatives in a general election.

Jessie Huey Laurence Papers - Accession 5

The Jessie Huey Laurence Papers primarily consist of correspondence, but also included are speeches, program notes, minutes, financial records, photographs, clippings, and scrapbooks relating to her role in the South Carolina Federation of Women’s Clubs (1928-1937); her promotion of a compulsory school attendance bill for South Carolina (1934-1936); the formation of the South Carolina Council for the Common Good (1935); Works Progress Administration (WPA) and Public Works Administration (PWA) projects in South Carolina; and her interest in the Catawba Indians of York County, as chairman of Indian Affairs Committee for the Catawba Chapter of the Daughters of the American Revolution. Subjects include literacy, Santee-Cooper Dam, Winthrop College, World War II, York County Historical Society, York, Chester, and Lancaster Counties and family history material including: Adams, Craig, Jackson, Lesslie, Lessly, Mull, Muehl, Robinson, Taylor, Weidner, Witherspoon, and Wylie families.

James Pinckney Kinard Papers - Accession 8

The James Pinckney Kinard Papers consist of family history charts of the Kinard family and related Kuhn and Summer families, and a Kinard family history, personal correspondence including letters to and from his wife Lee Wicker Kinard (1873-1963), their daughter Nelle Kinard, and other family members, business correspondence, financial papers, literary manuscripts, scrapbooks, and photographs pertaining to Kinard’s student days at the Citadel, his personal and family affairs, his teaching career, his presidency of Winthrop, and his efforts to get his literary manuscripts published. This collection consists primarily of correspondence and offers an informative insight into the personal lives and family affairs of Dr. Kinard and his wife, Mrs. Lee Wicker Kinard. The correspondence generally deals with Dr. Kinard’s struggle against the South Carolina legislature’s cuts in educational appropriations for Winthrop during the Depression; and his varied activities on behalf of Winthrop as President Emeritus. The collection also includes several unpublished manuscripts ranging from his student days at the Citadel to his later life. Areas of research would perhaps include, among others, biographical information on Dr. Kinard and social history during the Depression.

John Jones Letter - Accession 7 - M6 (16)

The John Jones Letter was written by Mr. Jones in 1841, a farmer, from Montevallo, Alabama, to Jesse Trusdel of Santon in Kershaw District, South Carolina, in which Jones discusses economic and health conditions in Shelby County, Alabama, his family affairs, and future plans. The collection includes the envelope (in pieces) and a handwritten transcription.

Hutchison Family Papers - Accession 19

The Hutchison Family Papers consist of diaries, journals, speeches, correspondence, genealogical material and financial papers, concerning the personal and business affairs of a Rock Hill family. Subjects include post-colonial life in the Carolinas, the antebellum plantation system in South Carolina, post-Civil War cotton farming, especially the Rock Hill Cotton Mill, and Rock Hill during World War I. There is also material concerning relations and negotiations with the Catawba Indians by David Hutchison who was one of several commissioners designated by the South Carolina legislature to investigate Catawba land claims and leasing practices; and historical sketches of Glencairn Garden, the White House and the Oakland Avenue Presbyterian Church, all located in Rock Hill, South Carolina. There are also included in the “General Correspondence and Related Papers” series such records as: last will and testament, inventory lists, certificates of indentured servants, legislative acts, (eg. 1840 Treaty with the Catawba Indians) and other similar documents. Correspondents include Jude Grimke, A.E. Hutchison, David Hutchison, Hiram Hutchison, James Moore, John N. Morehead and Thomas Spratt.

Women's Club of Rock Hill Records - Accession 219

The Women's Club of Rock Hill's mission is to further the cultural, educational, and social interest of its members and to promote interest in Rock Hill’s civic development and welfare. The Women's Club of Rock Hill Records consist of constitutions and bylaws, histories, minutes, reports, correspondence, memoranda, program notes, brochures, newsletters, membership lists, yearbooks, questions, certificates, awards, scrapbooks, newspaper clippings, and photographs. The records also relate to the thirteen affiliated clubs comprising the Woman’s Club of Rock Hill: Amateur Arts, Arts Appreciation, Book Discussion, Book Lovers, Crafts, Hearthstone, Hermitage, Home Study, Lantern, Literary, Outlook, Palmetto, and Politeia, and to other records for the South Carolina Federation of Women’s Club and the General Federation of Women’s Clubs. Records of various organizations not directly related to the Woman’s Club of Rock Hill are also included, such as the Tri-County Parents Without Partners, the Rock Hill Community Council, the Rock Hill Model Cities Commission, the Rock Hill Senior Center, and the South Carolina Conference on the Status of Women.

Boulware Family Papers - Accession 102

The Boulware Family Papers consist of photocopies of a plantation journal (302 pages) kept by Thomas McCullough Boulware I (1829-1889) and a genealogy of the Boulware family written by James Richmond Boulware II of Lakeland, Florida, in 1948. The journal concerns the Blackstocks Plantation in Chester County, South Carolina and subjects include the planting of crops and farming of land; family events, such as deaths, births and marriages; family travel and vacations; church affairs, including the local temperance league; land sales; free black and northerners in Chester County after the Civil War.

Christine South Gee Papers - Accession 10

The Christine South Gee Papers include family histories; biographical data; annual reports of home demonstration work in South Carolina (1920-1922) compiled by Mrs. Gee; speeches; magazine articles (1935-1963); newspaper clippings (1934-1968); photographs (1903-1954) and certificates of awards. The collection primarily pertains to Mrs. Gee’s work as South Carolina State Home Demonstration Agent (1918-1923); her role in the formation of the South Carolina Extension Homemakers’ Council (1921), formerly the South Carolina Council of Farm Women; her activities as president of the South Carolina Council for the Common Good (1943-1945); her study of development in programs for adult education and rural women; and her historical interest in South Carolina statesmen and political leaders. Family histories include information on the Puckett, Smith, Martin, Hudgens, McNeese, Rodgers, and Saxon families.

Genetic association of CD247 (CD3ζ) with SLE in a large-scale multiethnic study

A classic T-cell phenotype in systemic lupus erythematosus (SLE) is the downregulation and replacement of the CD3ζ chain that alters T-cell receptor signaling. However, genetic associations with SLE in the human CD247 locus that encodes CD3ζ are not well established and require replication in independent cohorts. Our aim was therefore to examine, localize and validate CD247-SLE association in a large multiethnic population. We typed 44 contiguous CD247 single-nucleotide polymorphisms (SNPs) in 8922 SLE patients and 8077 controls from four ethnically distinct populations. The strongest associations were found in the Asian population (11 SNPs in intron 1, 4.99 × 10(-4) < P < 4.15 × 10(-2)), where we further identified a five-marker haplotype (rs12141731-rs2949655-rs16859085-rs12144621-rs858554; G-G-A-G-A; P(hap) = 2.12 × 10(-5)) that exceeded the most associated single SNP rs858554 (minor allele frequency in controls = 13%; P = 4.99 × 10(-4), odds ratio = 1.32) in significance. Imputation and subsequent association analysis showed evidence of association (P < 0.05) at 27 additional SNPs within intron 1. Cross-ethnic meta-analysis, assuming an additive genetic model adjusted for population proportions, showed five SNPs with significant P-values (1.40 × 10(-3) < P< 3.97 × 10(-2)), with one (rs704848) remaining significant after Bonferroni correction (P(meta) = 2.66 × 10(-2)). Our study independently confirms and extends the association of SLE with CD247, which is shared by various autoimmune disorders and supports a common T-cell-mediated mechanism.

Report.

Report year irregular.

Actinide properties and methods of production /

Work performed at the E.I. du Pont de Nemours & Company, Savannah River Laboratory.

Report.

Report year ends June 30.