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Mapping susceptibility gene locus for IgA deficiency at del(18)(q22.3-q23); report of familial cryptic chromosome t(18q; 10p) translocations.
Int J Immunogenet 2007; 34(3):143-7IJ

Abstract

This study presents a clinical report of the Finnish chromosome t(18q; 10p) translocation family with an overview of eight other selected immunoglobulin A (IgA)-deficient 18q deletion (18q-) patients from seven published articles. The family members show features common to 18q- syndrome such as mental retardation, multiple facial dysmorphism, foot/hand deformities, abnormal myelination of brain white matter, and a spectrum of immunological/infectious disorders including IgA deficiency (IgAD). Genotype-phenotype correlation study of the unbalanced t(18q-; 10p+) translocation family members and other 18q- syndrome reports led to definition of a potential susceptibility gene locus for IgAD at distal region of 18q22.3-q23 between markers D18S812-18qter. The haplo-insufficiency of the 18q22.3-q23 gene region is suggested to be a cause of the IgAD phenotype in 18q- individuals. This 7 Mb IgAD critical region shows significant association with susceptibility region for celiac disease that is frequently connected to IgAD.

Authors+Show Affiliations

Center for Neurologic Diseases, Brigham Women Hospital and Harvard Medical School, Boston, MA 02115, USA. adostal@rics.bwh.harvard.eduNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info availableNo affiliation info available

Pub Type(s)

Journal Article
Research Support, Non-U.S. Gov't

Language

eng

PubMed ID

17504501

Citation

Dostal, A, et al. "Mapping Susceptibility Gene Locus for IgA Deficiency at Del(18)(q22.3-q23); Report of Familial Cryptic Chromosome T(18q; 10p) Translocations." International Journal of Immunogenetics, vol. 34, no. 3, 2007, pp. 143-7.
Dostal A, Linnankivi T, Somer M, et al. Mapping susceptibility gene locus for IgA deficiency at del(18)(q22.3-q23); report of familial cryptic chromosome t(18q; 10p) translocations. Int J Immunogenet. 2007;34(3):143-7.
Dostal, A., Linnankivi, T., Somer, M., Kähkönen, M., Litzman, J., & Tienari, P. (2007). Mapping susceptibility gene locus for IgA deficiency at del(18)(q22.3-q23); report of familial cryptic chromosome t(18q; 10p) translocations. International Journal of Immunogenetics, 34(3), pp. 143-7.
Dostal A, et al. Mapping Susceptibility Gene Locus for IgA Deficiency at Del(18)(q22.3-q23); Report of Familial Cryptic Chromosome T(18q; 10p) Translocations. Int J Immunogenet. 2007;34(3):143-7. PubMed PMID: 17504501.
* Article titles in AMA citation format should be in sentence-case
TY - JOUR T1 - Mapping susceptibility gene locus for IgA deficiency at del(18)(q22.3-q23); report of familial cryptic chromosome t(18q; 10p) translocations. AU - Dostal,A, AU - Linnankivi,T, AU - Somer,M, AU - Kähkönen,M, AU - Litzman,J, AU - Tienari,P, PY - 2007/5/17/pubmed PY - 2007/7/31/medline PY - 2007/5/17/entrez SP - 143 EP - 7 JF - International journal of immunogenetics JO - Int. J. Immunogenet. VL - 34 IS - 3 N2 - This study presents a clinical report of the Finnish chromosome t(18q; 10p) translocation family with an overview of eight other selected immunoglobulin A (IgA)-deficient 18q deletion (18q-) patients from seven published articles. The family members show features common to 18q- syndrome such as mental retardation, multiple facial dysmorphism, foot/hand deformities, abnormal myelination of brain white matter, and a spectrum of immunological/infectious disorders including IgA deficiency (IgAD). Genotype-phenotype correlation study of the unbalanced t(18q-; 10p+) translocation family members and other 18q- syndrome reports led to definition of a potential susceptibility gene locus for IgAD at distal region of 18q22.3-q23 between markers D18S812-18qter. The haplo-insufficiency of the 18q22.3-q23 gene region is suggested to be a cause of the IgAD phenotype in 18q- individuals. This 7 Mb IgAD critical region shows significant association with susceptibility region for celiac disease that is frequently connected to IgAD. SN - 1744-3121 UR - https://www.unboundmedicine.com/medline/citation/17504501/Mapping_susceptibility_gene_locus_for_IgA_deficiency_at_del_18__q22_3_q23_ L2 - https://doi.org/10.1111/j.1744-313X.2007.00652.x DB - PRIME DP - Unbound Medicine ER -