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A microdeletion of chromosome 9q33.3 encompasses the entire LMX1B gene in a Chinese family with nail patella syndrome.

Jiang S, Zhang J, Huang D, Zhang Y, Liu X, Wang Y, He R, Zhao Y - Int J Mol Sci (2014)

Bottom Line: 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.This heterozygous deletion provides strong evidence for haploinsufficiency as the pathogenic mechanism of NPS.

View Article: PubMed Central - PubMed

Affiliation: Clinical Genetics, the Affiliated Shengjing Hospital, China Medical University, Shenyang 110004, Liaoning, China. jsjdreamer@163.com.

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.

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(A) The complete genome analysis of the proband. A 0.66 Mb deletion in chromosome band 9q33.3, between 128,952,700 and 129,613,085 bp, which was detected by using an Illumina genome-wide DNA analysis beadchip; (B) Enlargement of the 9q33.3–q34.11 region from the UCSC genome browser shows a comparison between the deleted segments, cytogenetics bands and RefSeq genes. Patient 1 from Schlaubitz et al. [32]: brown bar. Patients of families A, B, and C from Bongers et al. [25]: light gray to black bars. Patient NPS4 from Marini et al. [22]: blue bar. Patient in present study: red bar.
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ijms-15-20158-f004: (A) The complete genome analysis of the proband. A 0.66 Mb deletion in chromosome band 9q33.3, between 128,952,700 and 129,613,085 bp, which was detected by using an Illumina genome-wide DNA analysis beadchip; (B) Enlargement of the 9q33.3–q34.11 region from the UCSC genome browser shows a comparison between the deleted segments, cytogenetics bands and RefSeq genes. Patient 1 from Schlaubitz et al. [32]: brown bar. Patients of families A, B, and C from Bongers et al. [25]: light gray to black bars. Patient NPS4 from Marini et al. [22]: blue bar. Patient in present study: red bar.

Mentions: The complete genome analysis beadchip from Illumina was used to determine the breakpoints of the segmental deletion. The evaluation indicated a heterozygous deletion spanning from 128,952,700 to 129,613,085 in 9q33.3, which demonstrated the deletion to be 0.66 Mb in size [31]. This segmental deletion included the whole LMX1B gene, encoding a LIM-homeobox transcription factor as being the causative gene of NPS. In addition, it contained MVB12B and ZBTB43 genes, which locate in the up and downstream of LMX1B, respectively (Figure 4).


A microdeletion of chromosome 9q33.3 encompasses the entire LMX1B gene in a Chinese family with nail patella syndrome.

Jiang S, Zhang J, Huang D, Zhang Y, Liu X, Wang Y, He R, Zhao Y - Int J Mol Sci (2014)

(A) The complete genome analysis of the proband. A 0.66 Mb deletion in chromosome band 9q33.3, between 128,952,700 and 129,613,085 bp, which was detected by using an Illumina genome-wide DNA analysis beadchip; (B) Enlargement of the 9q33.3–q34.11 region from the UCSC genome browser shows a comparison between the deleted segments, cytogenetics bands and RefSeq genes. Patient 1 from Schlaubitz et al. [32]: brown bar. Patients of families A, B, and C from Bongers et al. [25]: light gray to black bars. Patient NPS4 from Marini et al. [22]: blue bar. Patient in present study: red bar.
© Copyright Policy
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4264161&req=5

ijms-15-20158-f004: (A) The complete genome analysis of the proband. A 0.66 Mb deletion in chromosome band 9q33.3, between 128,952,700 and 129,613,085 bp, which was detected by using an Illumina genome-wide DNA analysis beadchip; (B) Enlargement of the 9q33.3–q34.11 region from the UCSC genome browser shows a comparison between the deleted segments, cytogenetics bands and RefSeq genes. Patient 1 from Schlaubitz et al. [32]: brown bar. Patients of families A, B, and C from Bongers et al. [25]: light gray to black bars. Patient NPS4 from Marini et al. [22]: blue bar. Patient in present study: red bar.
Mentions: The complete genome analysis beadchip from Illumina was used to determine the breakpoints of the segmental deletion. The evaluation indicated a heterozygous deletion spanning from 128,952,700 to 129,613,085 in 9q33.3, which demonstrated the deletion to be 0.66 Mb in size [31]. This segmental deletion included the whole LMX1B gene, encoding a LIM-homeobox transcription factor as being the causative gene of NPS. In addition, it contained MVB12B and ZBTB43 genes, which locate in the up and downstream of LMX1B, respectively (Figure 4).

Bottom Line: 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.This heterozygous deletion provides strong evidence for haploinsufficiency as the pathogenic mechanism of NPS.

View Article: PubMed Central - PubMed

Affiliation: Clinical Genetics, the Affiliated Shengjing Hospital, China Medical University, Shenyang 110004, Liaoning, China. jsjdreamer@163.com.

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.

Show MeSH
Related in: MedlinePlus