Genotype-Phenotype Correlation of 2q37 Deletions Including NPPC Gene Associated with Skeletal Malformations
Male
0301 basic medicine
Science
Gene Expression
03 medical and health sciences
Humans
RNA, Messenger
Child
Genetic Association Studies
In Situ Hybridization, Fluorescence
Comparative Genomic Hybridization
Bone Development
Q
R
Brain
Natriuretic Peptide, C-Type
Magnetic Resonance Imaging
Phenotype
Cardiovascular and Metabolic Diseases
Chromosomes, Human, Pair 2
Cytogenetic Analysis
Exoribonucleases
Medicine
Female
Chromosome Deletion
Research Article
DOI:
10.1371/journal.pone.0066048
Publication Date:
2013-06-21T17:17:29Z
AUTHORS (11)
ABSTRACT
Coordinated bone growth is controlled by numerous mechanisms which are only partially understood because of the involvement of many hormones and local regulators. The C-type Natriuretic Peptide (CNP), encoded by NPPC gene located on chromosome 2q37.1, is a molecule that regulates endochondral ossification of the cartilaginous growth plate and influences longitudinal bone growth. Two independent studies have described three patients with a Marfan-like phenotype presenting a de novo balanced translocation involving the same chromosomal region 2q37.1 and overexpression of NPPC. We report on two partially overlapping interstitial 2q37 deletions identified by array CGH. The two patients showed opposite phenotypes characterized by short stature and skeletal overgrowth, respectively. The patient with short stature presented a 2q37 deletion causing the loss of one copy of the NPPC gene and the truncation of the DIS3L2 gene with normal CNP plasma concentration. The deletion identified in the patient with a Marfan-like phenotype interrupted the DIS3L2 gene without involving the NPPC gene. In addition, a strongly elevated CNP plasma concentration was found in this patient. A possible role of NPPC as causative of the two opposite phenotypes is discussed in this study.
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