Majewski osteodysplastic primordial dwarfism type II (MOPD II) syndrome previously diagnosed as Seckel syndrome: Report of a novel mutation of thePCNTgene

2009 ◽  
Vol 149A (11) ◽  
pp. 2452-2456 ◽  
Author(s):  
Maria Piane ◽  
Matteo Della Monica ◽  
Gianluca Piatelli ◽  
Patrizia Lulli ◽  
Fortunato Lonardo ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Type Ii ◽  
Seckel Syndrome ◽  
Primordial Dwarfism ◽  
Syndrome Report

scholarly journals Microcephalin and pericentrin regulate mitotic entry via centrosome-associated Chk1

2009 ◽  
Vol 185 (7) ◽  
pp. 1149-1157 ◽  
Author(s):  
Alexandra Tibelius ◽  
Joachim Marhold ◽  
Hanswalter Zentgraf ◽  
Christoph E. Heilig ◽  
Heidemarie Neitzel ◽  
...  
Keyword(s):  
Ataxia Telangiectasia ◽  
Cyclin B ◽  
Fetal Life ◽  
Type Ii ◽  
Primary Microcephaly ◽  
Seckel Syndrome ◽  
Mitotic Entry ◽  
Primordial Dwarfism

Primary microcephaly, Seckel syndrome, and microcephalic osteodysplastic primordial dwarfism type II (MOPD II) are disorders exhibiting marked microcephaly, with small brain sizes reflecting reduced neuron production during fetal life. Although primary microcephaly can be caused by mutations in microcephalin (MCPH1), cells from patients with Seckel syndrome and MOPD II harbor mutations in ataxia telangiectasia and Rad3 related (ATR) or pericentrin (PCNT), leading to disturbed ATR signaling. In this study, we show that a lack of MCPH1 or PCNT results in a loss of Chk1 from centrosomes with subsequently deregulated activation of centrosomal cyclin B–Cdk1.

Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II

2021 ◽  
Vol 43 (2) ◽  
pp. 115-121
Author(s):  
Thu Hien Nguyen ◽  
Ngoc-Lan Nguyen ◽  
Chi Dung Vu ◽  
Can Thi Bich Ngoc ◽  
Ngoc Khanh Nguyen ◽  
...  
Keyword(s):  
Type Ii ◽  
Novel Mutations ◽  
Primordial Dwarfism

A new case of the osteodysplastic primordial dwarfism type II

1987 ◽  
Vol 26 (4) ◽  
pp. 819-824 ◽  
Author(s):  
Patrick J. Willems ◽  
Catrienus Rouwé ◽  
G. Peter A. Smit ◽  
John M. Opitz ◽  
James F. Reynolds
Keyword(s):  
Type Ii ◽  
Primordial Dwarfism
Sign in / Sign up

Export Citation Format

Share Document