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- Title
A Microdeletion of Chromosome 9q33.3 Encompasses the Entire LMX1B Gene in a Chinese Family with Nail Patella Syndrome.
- Authors
Shujuan Jiang; Jiubin Zhang; Dan Huang; Yuanyuan Zhang; Xiaoliang Liu; Yinzhao Wang; Rong He; Yanyan Zhao
- Abstract
Nail patella syndrome (NPS) is an autosomal dominant disorder characterized by nail malformations, patellar apoplasia, or patellar hypoplasia. Mutations within the LMX1B gene are found in 85% of families with NPS; thus, this gene has been characterized as the causative gene of NPS. In this study, we identified a heterozygous microdeletion of the entire LMX1B gene using multiplex ligation-dependent probe amplification (MLPA) in a Chinese family with NPS. The determination of the deletion breakpoints by Illumina genome-wide DNA analysis beadchip showed that the deletion was located in chromosome 9q33.3 and spanned about 0.66 Mb in size. This heterozygous deletion provides strong evidence for haploinsufficiency as the pathogenic mechanism of NPS.
- Subjects
CHINA; NAIL-patella syndrome; LIGATION reactions; DELETION mutation; DNA probes
- Publication
International Journal of Molecular Sciences, 2014, Vol 15, Issue 11, p20158
- ISSN
1661-6596
- Publication type
Article
- DOI
10.3390/ijms151120158