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Faculty of Medicine
Document Details
Document Type
:
Article In Journal
Document Title
:
Mutations in the pre-replication complex cause Meier-Gorlin syndrome
Mutations in the pre-replication complex cause Meier-Gorlin syndrome
Subject
:
Genetics
Document Language
:
English
Abstract
:
Meier-Gorlin syndrome (ear, patella and short-stature syndrome) is an autosomal recessive primordial dwarfism syndrome characterized by absent or hypoplastic patellae and markedly small ears¹⁻³. Both pre- and post-natal growth are impaired in this disorder, and although microcephaly is often evident, intellect is usually normal in this syndrome. We report here that individuals with this disorder show marked locus heterogeneity, and we identify mutations in five separate genes: ORC1, ORC4, ORC6, CDT1 and CDC6. All of these genes encode components of the pre-replication complex, implicating defects in replication licensing as the cause of a genetic syndrome with distinct developmental abnormalities
ISSN
:
1546-1718
Journal Name
:
Nature Genetics
Volume
:
43
Issue Number
:
4
Publishing Year
:
1432 AH
2011 AD
Article Type
:
Article
Added Date
:
Saturday, July 2, 2011
Researchers
Researcher Name (Arabic)
Researcher Name (English)
Researcher Type
Dr Grade
Email
جمانة الأعمى
Al-Aama, Jumana
Researcher
Doctorate
Files
File Name
Type
Description
29886.pdf
pdf
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