Journal
JOURNAL OF MEDICAL GENETICS
Volume 47, Issue 6, Pages 411-414Publisher
B M J PUBLISHING GROUP
DOI: 10.1136/jmg.2009.076646
Keywords
-
Categories
Funding
- KFSHRC
Ask authors/readers for more resources
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.
Authors
I am an author on this paper
Click your name to claim this paper and add it to your profile.
Reviews
Recommended
No Data Available