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.
Highlights
Nail patella syndrome (NPS; OMIM 161200) is an autosomal dominant disorder characterized by nail malformations, patellar apoplasia, or patellar hypoplasia
In addition to typical nail dysplasia and patellar apoplasia/hypoplasia, this disease could manifest as elbow dysplasia, iliac horns, muscle dystrophy, progressive nephropathy, primary open angle glaucoma, attention deficit hyperactivity disorder, and symptoms of depressive disorder [1,2,3,4,33,34]
Our findings indicate that this genetic alteration of LMX1B was not pathogenic for this NPS family; there must be other pathogenic mechanism for the observed phenomenon in this
Summary
Nail patella syndrome (NPS; OMIM 161200) is an autosomal dominant disorder characterized by nail malformations, patellar apoplasia, or patellar hypoplasia. In 1998, Dreyer et al [7] showed that NPS is caused by mutations of the LMX1B gene. Previous studies have suggested that the LMX1B gene plays a pivotal role in the development of limb, kidney, eye, nervous system, as well as other organs or systems; these abnormalities are consistent with the phenotypes of NPS disease [7,8,12,13,14,15,16,17,18]. We first present the identification of a 0.66 Mb heterozygous microdeletion encompassing entire LMX1B and flanking the MVB12B and ZBTB43 genes in a Chinese family with NPS
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