[Autoimmune regulator gene mutations in a Chinese family with autoimmune polyendocrinopathy syndrome type I].
OBJECTIVE
To identify the mutation of the autoimmune regulator gene (AIRE) in a Chinese family with autoimmune polyendocrinopathy syndrome type I (APS-I).


METHODS
The AIRE gene mutations were detected using PCR and direct DNA sequencing. Restriction enzyme analysis was used to confirm the mutations and bioinformatic methods were used to predict the possible impact of the mutations on the structure and function of the AIRE protein.


RESULTS
A compound heterozygous mutation of A19T/R257X was detected in the proband. Her father had the A19T mutation in exon 1, but this mutation was not detected in 100 unrelated healthy individuals. Her mother had the R257X mutation in exon 6.


CONCLUSIONS
This is the first report about AIRE mutations in Chinese APS-I kindred. The A19T mutation identified in this study has not been reported in the human gene mutation database (HGMD); the R257X has not been reported in Asians.
Department of Pediatrics, the First Hospital of Shanxi Medical University, Taiyuan, Shanxi, 030001 P.R.China.
Caihong
C
Liu
Yan
Y
Shi
Huaiqing
H
Yin
Hong
H
Li
Shulan
S
Fan
Shirun
S
Wu
Pingfei
P
Yuan
D000293:Adolescent; D000328:Adult; D000595:Amino Acid Sequence; D044466:Asian People / Q000235:genetics; D001483:Base Sequence; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D008969:Molecular Sequence Data; D009154:Mutation; D010375:Pedigree; D016884:Polyendocrinopathies, Autoimmune / Q000235:genetics*; D016415:Sequence Alignment; D014157:Transcription Factors / Q000737:chemistry / Q000235:genetics*; D000096927:AIRE Protein
D014157:Transcription Factors; D000096927:AIRE Protein