Submit Data |  Help |  Video Tutorials |  News |  Publications |  FTP Download |  REST API |  Citing RGD |  Contact   

Novel CENPJ mutation causes Seckel syndrome.

Authors: Al-Dosari, MS  Shaheen, R  Colak, D  Alkuraya, FS 
Citation: Al-Dosari MS, etal., J Med Genet. 2010 Jun;47(6):411-4. doi: 10.1136/jmg.2009.076646.
Pubmed: (View Article at PubMed) PMID:20522431
DOI: Full-text: DOI:10.1136/jmg.2009.076646

BACKGROUND Primordial dwarfism (PD) is an extremely rare, clinicallyheterogeneous condition characterised by profound prenatal and postnatal growth restriction among other manifestations that are helpful in the clinical classification. Recently, mutation of PCNT was reported in the context of two overlapping forms of PD: Seckel syndrome and Majewskiosteodysplastic primordial dwarfism type II (MOPDII). AIM To clinically and molecularly characterise a consanguineous family with Seckel syndrome. METHODS Clinical evaluation, linkage analysis, homozygosity mapping and mutation analysis. RESULTS Unexpectedly, linkage analysis led to the identification of a novel splice-site mutation in CENPJ that segregates with the phenotype in this family. CONCLUSION This report establishes for the first time that mutation of CENPJ can lead to Seckel syndrome and calls for further investigation of the role played by other microcephaly related genes in the pathogenesis of PD.

Annotation

Disease Annotations
Objects Annotated

Additional Information

 
CRRD Object Information
CRRD ID: 11541118
Created: 2016-10-10
Species: All species
Last Modified: 2016-10-10
Status: ACTIVE



NHLBI Logo

RGD is funded by grant HL64541 from the National Heart, Lung, and Blood Institute on behalf of the NIH.