A microdeletion of chromosome 9q33.3 encompasses the entire LMX1B gene in a Chinese family with nail patella syndrome.
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.
Clinical Genetics, the Affiliated Shengjing Hospital, China Medical University, Shenyang 110004, Liaoning, China. jsjdreamer@163.com.
Shujuan
S
Jiang
Orthopedics Department, the First Affiliated Hospital, China Medical University, Shenyang 110001, Liaoning, China. zhangjiubin1988@126.com.
Jiubin
J
Zhang
Clinical Genetics, the Affiliated Shengjing Hospital, China Medical University, Shenyang 110004, Liaoning, China. huangying_0301@163.com.
Dan
D
Huang
Clinical Genetics, the Affiliated Shengjing Hospital, China Medical University, Shenyang 110004, Liaoning, China. zyy.0526@163.com.
Yuanyuan
Y
Zhang
Clinical Genetics, the Affiliated Shengjing Hospital, China Medical University, Shenyang 110004, Liaoning, China. xiaoliang1981@126.com.
Xiaoliang
X
Liu
NO. 31 Middle School in Shenyang of Liaoning Province, Shenyang 110021, Liaoning, China. wangyinzhao@163.com.
Yinzhao
Y
Wang
Clinical Genetics, the Affiliated Shengjing Hospital, China Medical University, Shenyang 110004, Liaoning, China. her@sj-hospital.org.
Rong
R
He
Clinical Genetics, the Affiliated Shengjing Hospital, China Medical University, Shenyang 110004, Liaoning, China. yyzhao@sj-hospital.org.
Yanyan
Y
Zhao
D000328:Adult; D044466:Asian People / Q000235:genetics*; D001483:Base Sequence; D002681:China; D002872:Chromosome Deletion; D002899:Chromosomes, Human, Pair 9 / Q000235:genetics*; D004252:DNA Mutational Analysis; D005190:Family; D005260:Female; D015894:Genome, Human; D006801:Humans; D060850:LIM-Homeodomain Proteins / Q000235:genetics*; D008297:Male; D008969:Molecular Sequence Data; D060885:Multiplex Polymerase Chain Reaction; D009261:Nail-Patella Syndrome / Q000000981:diagnostic imaging / Q000235:genetics*; D010375:Pedigree; D011859:Radiography; D014157:Transcription Factors / Q000235:genetics*
C112149:LIM homeobox transcription factor 1 beta; D060850:LIM-Homeodomain Proteins; D014157:Transcription Factors