Skip to content
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Menu
Home
About Us
Resources
Profiles Metrics
Authors Directory
Institutions Directory
Top Authors
Top Institutions
Top Sponsors
AI Digest
Contact Us
Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
Genomic analysis of primordial dwarfism reveals novel disease genes
Genome Research, Volume 24, No. 2, Year 2014
Notification
URL copied to clipboard!
Description
Primordial dwarfism (PD) is a disease in which severely impaired fetal growth persists throughout postnatal development and results in stunted adult size. The condition is highly heterogeneous clinically, but the use of certain phenotypic aspects such as head circumference and facial appearance has proven helpful in defining clinical subgroups. In this study, we present the results of clinical and genomic characterization of 16 new patients in whom a broad definition of PD was used (e.g., 3M syndrome was included). We report a novel PD syndrome with distinct facies in two unrelated patients, each with a different homozygous truncating mutation in CRIPT. Our analysis also reveals, in addition to mutations in known PD disease genes, the first instance of biallelic truncating BRCA2 mutation causing PD with normal bone marrow analysis. In addition, we have identified a novel locus for Seckel syndrome based on a consanguineous multiplex family and identified a homozygous truncating mutation in DNA2 as the likely cause. An additional novel PD disease candidate gene XRCC4 was identified by autozygome/exome analysis, and the knockout mouse phenotype is highly compatible with PD. Thus, we add a number of novel genes to the growing list of PD-linked genes, including one which we show to be linked to a novel PD syndrome with a distinct facial appearance. PD is extremely heterogeneous genetically and clinically, and genomic tools are often required to reach a molecular diagnosis. © 2014 Hansen et al.
Authors & Co-Authors
Shaheen, Ranad
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Faqeih, Eissa Ali
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Ansari, S.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Abdel-Salam, Ghada M.H.
Egypt, Giza
National Research Centre
Al-Hassnan, Zuhair Nasser
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Al-Shidi, Tarfa
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Alomar, Rana
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Sogaty, Samira
Saudi Arabia, Jeddah
King Fahd General Hospital
Alkuraya., Fowzan S.
Saudi Arabia, Riyadh
King Faisal Specialist Hospital and Research Centre
Saudi Arabia, Riyadh
College of Medicine Alfaisal University
Statistics
Citations: 148
Authors: 9
Affiliations: 4
Identifiers
Doi:
10.1101/gr.160572.113
ISSN:
10889051
e-ISSN:
15495469
Research Areas
Cancer
Genetics And Genomics
Maternal And Child Health