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Int. J. Mol. Sci. 2014, 15(11), 20158-20168; doi:10.3390/ijms151120158

A Microdeletion of Chromosome 9q33.3 Encompasses the Entire LMX1B Gene in a Chinese Family with Nail Patella Syndrome

Clinical Genetics, the Affiliated Shengjing Hospital, China Medical University, Shenyang 110004, Liaoning, China
Orthopedics Department, the First Affiliated Hospital, China Medical University, Shenyang 110001, Liaoning, China
NO. 31 Middle School in Shenyang of Liaoning Province, Shenyang 110021, Liaoning, China
Authors to whom correspondence should be addressed.
Received: 24 August 2014 / Revised: 7 October 2014 / Accepted: 24 October 2014 / Published: 5 November 2014
(This article belongs to the Section Biochemistry, Molecular and Cellular Biology)
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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. View Full-Text
Keywords: gene deletion; LMX1B; MLPA; nail patella syndrome gene deletion; LMX1B; MLPA; nail patella syndrome

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This is an open access article distributed under the Creative Commons Attribution License which permits unrestricted use, distribution, and reproduction in any medium, provided the original work is properly cited. (CC BY 4.0).

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Jiang, S.; Zhang, J.; Huang, D.; Zhang, Y.; Liu, X.; Wang, Y.; He, R.; Zhao, Y. A Microdeletion of Chromosome 9q33.3 Encompasses the Entire LMX1B Gene in a Chinese Family with Nail Patella Syndrome. Int. J. Mol. Sci. 2014, 15, 20158-20168.

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