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Series GSE150754 Query DataSets for GSE150754
Status Public on Jun 01, 2020
Title Compound craniosynostosis, intellectual disability and Noonan-like facial dysmorphism associated with 7q32.3-q35 deletion
Organism Homo sapiens
Experiment type Expression profiling by array
Summary Craniosynostosis (CS) is the premature fusion of the cranial sutures,occurring either in isolated or syndromic form. CS was described in over 180 genetic syndromes that comprise 15-30% of all CS cases. Syndromic CS usually has a monogenic inheritance and originates in most of the patients from mutations within the FGFR1, FGFR2, FGFR3, and TWIST1 genes. Causative alterations in other genes, or rarely copy number variations (CNVs) were also reported. In this paper, we describe a patient with Noonan-like facial dysmorphism accompanied by intellectual disability, and compound CS, involving coronal, sagittal, and squamous sutures. We have shown that the index carried a large and rare heterozygous deletion, which encompassed 12.782 Mb and mapped to a chromosomal region of 7q32.3-q35 (HG38 – chr7:131837067-144607071). The aberration comprised 109 protein-coding genes, including BRAF, that encodes serine/threonine-protein kinase B-Raf, being a part of the RAS/MAPK signaling pathway. The RAS/MAPK pathway plays an essential role in human development, hence its dysregulation not surprisingly results in severe congenital anomalies, such as phenotypically overlapping syndromes termed RASopathies. To our best knowledge, we report here the first CNV causing haploinsufficiency of BRAF, resulting in dysregulation of the RAS/MAPK cascade, and consequently, in the phenotype observed in our patient. To conclude, with this report, we have pointed to the involvement of the RAS/MAPK signaling pathway in CS development. Moreover, we have shown that the molecular analysis based on both DNA and RNA profiling, undoubtedly constitutes a comprehensive diagnostic and research strategy for elucidating a cause of genetic diseases.
 
Overall design female control and female patient
 
Contributor(s) Bukowska-Olech E
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Submission date May 18, 2020
Last update date Jun 03, 2020
Contact name Ewelina Bukowska-Olech
E-mail(s) ewelina.bukowska-olech@student.ump.edu.pl
Organization name Univeristy of Medical Sciences
Street address Rokietnicka 8
City Poznan
ZIP/Postal code 60-806
Country Poland
 
Platforms (1)
GPL20844 Agilent-072363 SurePrint G3 Human GE v3 8x60K Microarray 039494 [Feature Number Version]
Samples (2)
GSM4558105 Female patient
GSM4558106 Female control
Relations
BioProject PRJNA633506

Download family Format
SOFT formatted family file(s) SOFTHelp
MINiML formatted family file(s) MINiMLHelp
Series Matrix File(s) TXTHelp

Supplementary file Size Download File type/resource
GSE150754_RAW.tar 16.3 Mb (http)(custom) TAR (of TXT)
Processed data included within Sample table

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