alexa Genetics of Sotos syndrome.
Clinical Research

Clinical Research

Journal of Clinical Case Reports

Author(s): Visser R, Matsumoto N

Abstract Share this page

Abstract PURPOSE OF REVIEW: Sotos syndrome (SoS) (OMIM #117550) is a childhood overgrowth syndrome characterized by excessive growth, distinctive craniofacial features, developmental delay, and advanced bone age. Recently, haploinsufficiency of the NSD1 gene has been identified as the major cause of SoS, with intragenic mutations or submicroscopic microdeletions being found in about 60 to 75\% of clinically diagnosed patients with SoS. RECENT FINDINGS: Recent reports provided much information about the genetic background of SoS, the NSD gene family, and genotype-phenotype correlation. They also added new perspectives in the discussion about a possible association between SoS and neoplasia. SUMMARY: This review focuses on recent genetic developments in SoS. Clinical features and associated anomalies are reviewed in relation to possible functional roles of NSD1. Genotype-phenotype correlation between patients with SoS harboring either intragenic mutations or microdeletions is discussed as well as their implication for possible revision of the diagnostic criteria of SoS. Furthermore, future prospects in genetic research of SoS are presented.
This article was published in Curr Opin Pediatr and referenced in Journal of Clinical Case Reports

Relevant Expert PPTs

Relevant Speaker PPTs

Relevant Topics

Peer Reviewed Journals
 
Make the best use of Scientific Research and information from our 700 + peer reviewed, Open Access Journals
International Conferences 2017-18
 
Meet Inspiring Speakers and Experts at our 3000+ Global Annual Meetings

Contact Us

Agri & Aquaculture Journals

Dr. Krish

[email protected]

1-702-714-7001Extn: 9040

Biochemistry Journals

Datta A

[email protected]

1-702-714-7001Extn: 9037

Business & Management Journals

Ronald

[email protected]

1-702-714-7001Extn: 9042

Chemistry Journals

Gabriel Shaw

[email protected]

1-702-714-7001Extn: 9040

Clinical Journals

Datta A

[email protected]

1-702-714-7001Extn: 9037

Engineering Journals

James Franklin

[email protected]

1-702-714-7001Extn: 9042

Food & Nutrition Journals

Katie Wilson

[email protected]

1-702-714-7001Extn: 9042

General Science

Andrea Jason

[email protected]

1-702-714-7001Extn: 9043

Genetics & Molecular Biology Journals

Anna Melissa

[email protected]

1-702-714-7001Extn: 9006

Immunology & Microbiology Journals

David Gorantl

[email protected]

1-702-714-7001Extn: 9014

Materials Science Journals

Rachle Green

[email protected]

1-702-714-7001Extn: 9039

Nursing & Health Care Journals

Stephanie Skinner

[email protected]

1-702-714-7001Extn: 9039

Medical Journals

Nimmi Anna

[email protected]

1-702-714-7001Extn: 9038

Neuroscience & Psychology Journals

Nathan T

[email protected]

1-702-714-7001Extn: 9041

Pharmaceutical Sciences Journals

Ann Jose

[email protected]

1-702-714-7001Extn: 9007

Social & Political Science Journals

Steve Harry

[email protected]

1-702-714-7001Extn: 9042

 
© 2008- 2017 OMICS International - Open Access Publisher. Best viewed in Mozilla Firefox | Google Chrome | Above IE 7.0 version
adwords