Diagnosing Smith'Magenis Syndrome and Duplication 17p11.2 Syndrome by RAI1 Gene Copy Number Variation Using Quantitative Real-time PCR.

Hoa Truong, Sarah Solaymani-Kohal, Kevin R. Baker, Santosh Girirajan, Stephen R. Williams, Christopher N. Vlangos, Ann C.M. Smith, David J. Bunyan, Paul E. Roffey, Christopher Blanchard, Sarah H. Elsea

Research output: Contribution to journalArticlepeer-review

10 Citations (Scopus)

Abstract

Smith'Magenis syndrome (SMS) and duplication 17p11.2 (dup17p11.2) syndrome are multiple congenital anomalies=mental retardation disorders resulting from either a deletion or duplication of the 17p11.2 region,respectively. The retinoic acid induced 1 (RAI1) gene is the causative gene for SMS and is included in the 17p11.2 region of dup17p11.2 syndrome. Currently SMS and dup17p11.2 syndrome are diagnosed using a combination ofclinically recognized phenotypes and molecular cytogenetic analyses such as fluorescent in situ hybridization(FISH). However, these methods have proven to be highly expensive, time consuming, and dependent upon thelow resolving capabilities of the assay. To address the need for improved diagnostic methods for SMS and dup17p11.2 syndrome, we designed a quantitative real-time PCR (Q-PCR) assay that measures RAI1 copy numberusing the comparative Ct method, DDCt. We tested our assay with samples blinded to their previous SMS ord up17p11.2 syndrome status. In all cases, we were able to determine RAI1 copy number status and render a correct diagnosis accordingly. We validated these results by both FISH and multiplex ligation-dependent probe amplification(MLPA). We conclude that Q-PCR is an accurate, reproducible, low-cost, and reliable assay that can be employed for routine use in SMS and dup17p11.2 diagnosis.
Original languageEnglish
Pages (from-to)67-73
Number of pages7
JournalGenetic Testing and Molecular Biomarkers
Volume12
Issue number1
DOIs
Publication statusPublished - 2008

Fingerprint Dive into the research topics of 'Diagnosing Smith'Magenis Syndrome and Duplication 17p11.2 Syndrome by RAI1 Gene Copy Number Variation Using Quantitative Real-time PCR.'. Together they form a unique fingerprint.

Cite this