Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 2017 Jun;42(2):209-218.
doi: 10.1007/s12038-017-9686-5.

Genetic diagnosis of a Chinese multiple endocrine neoplasia type 2A family through whole genome sequencing

Zhen-Fang DU  1 , Peng-Fei Li, Jian-Qiang Zhao, Zhi-Lie Cao, Feng Li, Ju-Ming Ma, Xiao-Ping Qi
Affiliations

Genetic diagnosis of a Chinese multiple endocrine neoplasia type 2A family through whole genome sequencing

Zhen-Fang DU et al. J Biosci. 2017 Jun.

Abstract

Approximately 98% of patients with multiple endocrine neoplasia type 2A (MEN 2A) have an identifiable RET mutation. Prophylactic or early total thyroidectomy or pheochromocytoma/parathyroid removal in patients can be preventative or curative and has become standard management. The general strategy for RET screening on family members at risk is to sequence the most commonly affected exons and, if negative, to extend sequencing to additional exons. However, different families with MEN 2A due to the same RET mutation often have significant variability in the clinical exhibition of disease and aggressiveness of the MTC, which implies additional genetic loci exsit beyond RET coding region. Whole genome sequencing (WGS) greatly expands the breadth of screening from genes associated with a particular disease to the whole genome and, potentially, all the information that the genome contains about diseases or traits. This is presumably due to additive effect of disease modifying factors. In this study, we performed WGS on a typical Chinese MEN 2A proband and identified the pathogenic RET p.C634R mutation. We also identified several neutral variants within RET and pheochromocytoma-related genes. Moreover, we found several interesting structural variants including genetic deletions (RSPO1, OVCH2 and AP3S1, etc.) and fusion transcripts (FSIP1-BAZ2A, etc.).

PubMed Disclaimer

Similar articles

See all similar articles

Cited by

References

    1. Eur J Endocrinol. 2013 Apr 15;168(5):683-7 - PubMed
    1. Thyroid. 2015 Jun;25(6):567-610 - PubMed
    1. Cell. 1985 Sep;42(2):581-8 - PubMed
    1. Nature. 2012 Apr 29;485(7397):195-200 - PubMed
    1. Clin Endocrinol (Oxf). 2008 Sep;69(3):418-25 - PubMed

LinkOut - more resources