Mapping of the X Linked Form of Hyper IgM Syndrome (HIGM1)

Overview

Journal J Med Genet

Specialty Genetics

Date 1993 Mar 1

PMID 8097258

Citations 4

Authors

M Padayachee

R J Levinsky

C Kinnon

A Finn

C McKeown

C Feighery

L D Notarangelo

R W Hendriks

A P Read

S Malcolm

Affiliations

Soon will be listed here.

Abstract

X linked immunodeficiency with hyperimmunoglobulinaemia M (HIGM1), which is characterised by agammaglobulinaemia together with excess IgM production reflecting an impairment of the immunoglobulin heavy chain class switch of B lymphocytes, has been mapped to Xq26. We report multipoint linkage data in six families with HIGM1 which show that the most likely position for the gene is close to HPRT with a maximum lod score of 4.89. The finding of recombinations between HIGM1 and both HPRT and DXS42 implies that HIGM1 is not allelic to X linked lymphoproliferative disease. These data will be useful in genetic counselling in families and will also be useful in testing candidate genes.

Citing Articles

X-linked hyper IgM syndrome.

Schneider L Clin Rev Allergy Immunol. 2000; 19(2):205-15.

PMID: 11107502 DOI: 10.1385/CRIAI:19:2:205.

The hyper-IgM (HIM) syndrome.

Ramesh N, Seki M, Notarangelo L, Geha R Springer Semin Immunopathol. 1998; 19(4):383-99.

PMID: 9618764 DOI: 10.1007/BF00792598.

A single strand conformation polymorphism study of CD40 ligand. Efficient mutation analysis and carrier detection for X-linked hyper IgM syndrome.

Lin Q, Rohrer J, Allen R, Larche M, Greene J, Shigeoka A J Clin Invest. 1996; 97(1):196-201.

PMID: 8550833 PMC: 507079. DOI: 10.1172/JCI118389.

Organization of the human CD40L gene: implications for molecular defects in X chromosome-linked hyper-IgM syndrome and prenatal diagnosis.

Villa A, Notarangelo L, Di Santo J, Macchi P, Strina D, Frattini A Proc Natl Acad Sci U S A. 1994; 91(6):2110-4.

PMID: 7907793 PMC: 43319. DOI: 10.1073/pnas.91.6.2110.

References

Edwards A, Civitello A, HAMMOND H, Caskey C . DNA typing and genetic mapping with trimeric and tetrameric tandem repeats. Am J Hum Genet. 1991; 49(4):746-56. PMC: 1683171. View

Hendriks R, Schuurman R . Genetics of human X-linked immunodeficiency diseases. Clin Exp Immunol. 1991; 85(2):182-92. PMC: 1535742. DOI: 10.1111/j.1365-2249.1991.tb05702.x. View

Huang T, Hejtmancik J, Edwards A, PETTIGREW A, Herrera C, HAMMOND H . Linkage of the gene for an X-linked mental retardation disorder to a hypervariable (AGAT)n repeat motif within the human hypoxanthine phosphoribosyltransferase (HPRT) locus (Xq26). Am J Hum Genet. 1991; 49(6):1312-9. PMC: 1686460. View

Notarangelo L, Parolini O, Albertini A, Duse M, Mazzolari E, Plebani A . Analysis of X-chromosome inactivation in X-linked immunodeficiency with hyper-IgM (HIGM1): evidence for involvement of different hematopoietic cell lineages. Hum Genet. 1991; 88(2):130-4. DOI: 10.1007/BF00206059. View

LITTLE R, Pilia G, Johnson S, DUrso M, Schlessinger D . Yeast artificial chromosomes spanning 8 megabases and 10-15 centimorgans of human cytogenetic band Xq26. Proc Natl Acad Sci U S A. 1992; 89(1):177-81. PMC: 48199. DOI: 10.1073/pnas.89.1.177. View

Notarangelo L, Duse M, Ugazio A . Immunodeficiency with hyper-IgM (HIM). Immunodefic Rev. 1992; 3(2):101-21. View

Armitage R, Fanslow W, Strockbine L, Sato T, Clifford K, Macduff B . Molecular and biological characterization of a murine ligand for CD40. Nature. 1992; 357(6373):80-2. DOI: 10.1038/357080a0. View

Huang T, Cottingham Jr R, Ledbetter D, Zoghbi H . Genetic mapping of four dinucleotide repeat loci, DXS453, DXS458, DXS454, and DXS424, on the X chromosome using multiplex polymerase chain reaction. Genomics. 1992; 13(2):375-80. DOI: 10.1016/0888-7543(92)90256-r. View

Padayachee M, Feighery C, Finn A, McKeown C, Levinsky R, Kinnon C . Mapping of the X-linked form of hyper-IgM syndrome (HIGM1) to Xq26 by close linkage to HPRT. Genomics. 1992; 14(2):551-3. DOI: 10.1016/s0888-7543(05)80270-8. View

10.

Rosen F, KEVY S, Merler E, Janeway C, GITLIN D . Recurrent bacterial infections and dysgamma-globulinemia: deficiency of 7S gamma-globulins in the presence of elevated 19S gamma-globulins. Report of two cases. Pediatrics. 1961; 28:182-95. View

11.

Jamieson W, KERR M . A family with several cases of hypogammaglobulinaemia. Arch Dis Child. 1962; 37:330-6. PMC: 2012845. DOI: 10.1136/adc.37.193.330. View

12.

Hearne C, Todd J . Tetranucleotide repeat polymorphism at the HPRT locus. Nucleic Acids Res. 1991; 19(19):5450. PMC: 328931. View

13.

Aldridge J, Kunkel L, Bruns G, Tantravahi U, Lalande M, Brewster T . A strategy to reveal high-frequency RFLPs along the human X chromosome. Am J Hum Genet. 1984; 36(3):546-64. PMC: 1684472. View

14.

Mayer L, Kwan S, Thompson C, Ko H, Chiorazzi N, Waldmann T . Evidence for a defect in "switch" T cells in patients with immunodeficiency and hyperimmunoglobulinemia M. N Engl J Med. 1986; 314(7):409-13. DOI: 10.1056/NEJM198602133140703. View

15.

Mensink E, Thompson A, Sandkuyl L, Kraakman M, Schot J, Espanol T . X-linked immunodeficiency with hyperimmunoglobulinemia M appears to be linked to the DXS42 restriction fragment length polymorphism locus. Hum Genet. 1987; 76(1):96-9. DOI: 10.1007/BF00283057. View

16.

Malcolm S, de Saint Basile G, Arveiler B, Lau Y, Szabo P, Fischer A . Close linkage of random DNA fragments from Xq 21.3-22 to X-linked agammaglobulinaemia (XLA). Hum Genet. 1987; 77(2):172-4. DOI: 10.1007/BF00272387. View

17.

Jeanpierre M . A rapid method for the purification of DNA from blood. Nucleic Acids Res. 1987; 15(22):9611. PMC: 306503. DOI: 10.1093/nar/15.22.9611. View

18.

Kidd K, Bowcock A, Schmidtke J, Track R, Ricciuti F, Hutchings G . Report of the DNA committee and catalogs of cloned and mapped genes and DNA polymorphisms. Cytogenet Cell Genet. 1989; 51(1-4):622-947. DOI: 10.1159/000132810. View

19.

Luty J, Guo Z, Willard H, Ledbetter D, Ledbetter S, Litt M . Five polymorphic microsatellite VNTRs on the human X chromosome. Am J Hum Genet. 1990; 46(4):776-83. PMC: 1683648. View

20.

Hendriks R, Kraakman M, Craig I, Espanol T, Schuurman R . Evidence that in X-linked immunodeficiency with hyperimmunoglobulinemia M the intrinsic immunoglobulin heavy chain class switch mechanism is intact. Eur J Immunol. 1990; 20(12):2603-8. DOI: 10.1002/eji.1830201212. View