+ Site Statistics
References:
54,258,434
Abstracts:
29,560,870
PMIDs:
28,072,757
+ Search Articles
+ Subscribe to Site Feeds
Most Shared
PDF Full Text
+ PDF Full Text
Request PDF Full Text
+ Follow Us
Follow on Facebook
Follow on Twitter
Follow on LinkedIn
+ Translate
+ Recently Requested

Screening for AIP gene mutations in a Han Chinese pituitary adenoma cohort followed by LOH analysis



Screening for AIP gene mutations in a Han Chinese pituitary adenoma cohort followed by LOH analysis



European Journal of Endocrinology 169(6): 867-884



The aryl hydrocarbon receptor interacting protein gene (AIP) is associated with pituitary adenoma (PA). AIP has not been sequenced in East Asian PA populations, so we performed this study in a Han Chinese cohort. Our study included six familial PA pedigrees comprising 16 patients and 27 unaffected relatives, as well as 216 sporadic PA (SPA) patients and 100 unrelated healthy controls. AIP sequencing was carried out on genomic DNA isolated from blood samples. Multiplex ligation-dependent probe amplification and microsatellite marker analyses on DNA from the paired tumor tissues were performed for loss of heterozygosity analysis. We identified three common and four rare single nucleotide polymorphisms (SNPs), one intron insertion, one novel synonymous variant, four novel missense variants, and a reported nonsense mutation in three familial isolated PA (FIPA) cases from the same family. Large genetic deletions were not observed in the germline but were seen in the sporadic tumor DNA from three missense variant carriers. The prevalence of AIP pathogenic variants in PA patients here was low (3.88%), but was higher in somatotropinoma patients (9.30%), especially in young adults (≤30 years) and pediatric (≥18 years) paients (17.24% and 25.00% respectively). All AIP variant patients suffered from macroadenomas. However, the AIP mutation rate in FIPA families was low in this cohort (16.67%, 1/6 families). AIP gene mutation may not be frequent in FIPA or SPA from the Han Chinese population. AIP sequencing and long-term follow-up investigations should be performed for young patients with large PAs and their families with PA predisposition.

(PDF emailed within 0-6 h: $19.90)

Accession: 055670675

Download citation: RISBibTeXText

PMID: 24050928

DOI: 10.1530/EJE-13-0442


Related references

Screening of ABCA4 Gene in a Chinese Cohort With Stargardt Disease or Cone-Rod Dystrophy With a Report on 85 Novel Mutations. Investigative Ophthalmology & Visual Science 57(1): 145-152, 2016

Genetic screening and functional analysis of CASP9 mutations in a Chinese cohort with neural tube defects. Cns Neuroscience & Therapeutics 24(5): 394-403, 2018

Familial isolated pituitary adenomas (FIPA) and the pituitary adenoma predisposition due to mutations in the aryl hydrocarbon receptor interacting protein (AIP) gene. Endocrine Reviews 34(2): 239-277, 2013

Comprehensive screening for PRSS1, SPINK1, CFTR, CTRC and CLDN2 gene mutations in Chinese paediatric patients with idiopathic chronic pancreatitis: a cohort study. Bmj Open 3(9): E003150-E003150, 2013

Screening of common deafness gene mutations in 17 000 Chinese newborns from Chengdu based on microarray analysis. Zhonghua Yi Xue Yi Chuan Xue Za Zhi 31(5): 547-552, 2015

Pituitary adenoma predisposition caused by germline mutations in the AIP gene. Science 312(5777): 1228-1230, 2006

Screening and analysis of the mutations on beta-myosin heavy chain gene in 3 Chinese families with hypertrophic cardiomyopathy. Zhonghua Xin Xue Guan Bing Za Zhi 39(2): 110-113, 2011

Screening of mutations in SOD1 gene and analysis of genotype-phenotype correlation in Chinese patients with amyotrophic lateral sclerosis. Yi Chuan 33(7): 720-724, 2011

Screening for CCNF Mutations in a Chinese Amyotrophic Lateral Sclerosis Cohort. Frontiers in Aging Neuroscience 10: 185-185, 2018

STARD-rapid screening for the 6 most common G6PD gene mutations in the Chinese population using the amplification refractory mutation system combined with melting curve analysis. Medicine 97(17): E0426-E0426, 2018

Molecular diagnosis of pituitary adenoma predisposition caused by aryl hydrocarbon receptor-interacting protein gene mutations. Proceedings of the National Academy of Sciences of the United States of America 104(10): 4101-4105, 2007

Gene mutations in a Han Chinese Alzheimer's disease cohort. Brain and Behavior 2018: E01180-E01180, 2018

Clinical Manifestation of Calreticulin Gene Mutations in Essential Thrombocythemia without Janus Kinase 2 and MPL Mutations: A Chinese Cohort Clinical Study. Chinese Medical Journal 129(15): 1778-1783, 2016

Genetic analysis in a patient presenting with meningioma and familial isolated pituitary adenoma (FIPA) reveals selective involvement of the R81X mutation of the AIP gene in the pathogenesis of the pituitary tumor. Pituitary 15 Suppl 1: S61-S67, 2013

Novel mutations of the RS1 gene in a cohort of Chinese families with X-linked retinoschisis. Molecular Vision 20(): 132-139, 2014