Abstract The clinical data of one patient with autoimmune polyendocrinopathy syndrome type I were collected.PCR-DNA direct bidirectional sequencing was applied for mutation screening of 14 exons in autoimmune regulator(AIRE) gene in the patient and her parents.A total of 50 unrelated healthy controls were selected and tested.The bioinformatic methods were used to predict the possible impact of the mutations on the structure and function of the AIRE protein.The results of sequencing showed that heterozygous mutation c.622G>T(p.G208W) in exon 5 of the AIRE gene was detected in the patient and was a novel mutation, which had not been reported in the HGMD database and latest articles.This mutation was not detected in the 50 unrelated normal controls.The novel mutation of c.622G>T(p.G208W) in AIRE gene might play an important role in the pathogenesis of this case of autoimmune polyendocrinopathy syndrome type I.
SUN Yong-Xiang,HE Ya-Fei,LI Xia-Lian. Clinical analysis and autoimmune regulator gene mutation of autoimmune polyendocrinopathy syndrome type I in a family: a report of one case[J]. CJCP, 2016, 18(2): 147-151.
SUN Yong-Xiang,HE Ya-Fei,LI Xia-Lian. Clinical analysis and autoimmune regulator gene mutation of autoimmune polyendocrinopathy syndrome type I in a family: a report of one case[J]. CJCP, 2016, 18(2): 147-151.
Zhang J, Liu H, Liu Z, et al. A functional alternative splicing mutation in AIRE gene causes autoimmune polyendocrine syndrome type 1[J]. PLoS One, 2013, 8(1):e53981.
[5]
Björses P, Aaltonen J, Vikman A, et al. Genetic homogeneity of autoimmune polyglandular disease type I[J]. Am J Hum Genet, 1996, 59(4):879-886.
Michels AW, Eisenbarth GS. Autoimmune polyendocrine syndrome type 1(APS-1) as a model for understanding autoimmune polyendocrine syndrome type 2(APS-2)[J]. J Intern Med, 2009, 265(5):530-540.
[8]
Shikama N, Nusspaumer G, Holländer GA. Clearing the AIRE:on the pathophysiological basis of the autoimmune polyendocrinopathy syndrome type-1[J]. Endocrinol Metab Clin North Am, 2009, 38(2):273-288.
[9]
Nagamine K, Peterson P, Scott HS, et al. Positional cloning of the APECED gene[J]. Nat Genet, 1997, 17(4):393-398.
[10]
Finnish-German APECED Consortium. An autoimmune disease, APECED, caused by mutations in a novel gene featuring two PHD-type zinc-finger domains[J]. Nat Genet, 1997, 17(4):399-403.
[11]
Lopes N, Ferrier P, Irla M. Induction of central tolerance by the factor Aire:molecular and epigenetic regulation[J]. Med Sci(Paris), 2015, 31(8-9):742-747.
[12]
Bottomley MJ, Collard MW, Huggenvik JI, et al. The SAND domain structure defines a novel DNA-binfing fold in transcriptional regulation[J]. Nat Struct Biol, 2001, 8(7):626-633.
[13]
Ramsey C, Bukrinsky A, Peltonen L. Systematic mutagenesis of the functional domains of AIRE reveals their role in intracellular targeting[J]. Hum Mol Genet, 2002, 11(26):3299-3308.
[14]
Meloni A, Perniola R, FaàV, et al. Delineation of the molecular defects in the AIRE gene in autoimmune polyendoerinopathycandidiasis-ectodermal dystrophy patients from Southern Italy[J]. J Clin Endocrinol Metab, 2002, 87(2):841-846.
[15]
Cetani F, Barbesino G, Borsari S, et al. A novel mutation of the autoimmune regulator gene in an Italian kindred with autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy, acting in a dominant fashion and strongly cosegregating with hypothyroid autoimmune thyroiditis[J]. J Clin Endocrinol Metab, 2001, 86(10):4747-4752.
[16]
Temajo NO, Howard N. The mosaic of environment involvement in autoimmunity:the abrogation of viral latency by stress, a non-infectious environmental agent, is an intrinsic prerequisite prelude before viruses can rank as infectious environmental agents that trigger autoimmune diseases[J]. Autoimmun Rev, 2014, 13(6):635-640.
