POC1A Truncation Mutation Causes a Ciliopathy in Humans Characterized by Primordial Dwarfism
نویسندگان
چکیده
منابع مشابه
Novel POC1A mutation in primordial dwarfism reveals new insights for centriole biogenesis.
POC1A encodes a WD repeat protein localizing to centrioles and spindle poles and is associated with short stature, onychodysplasia, facial dysmorphism and hypotrichosis (SOFT) syndrome. These main features are related to the defect in cell proliferation of chondrocytes in growth plate. In the current study, we aimed at identifying the molecular basis of two patients with primordial dwarfism (PD...
متن کاملA mutation in VPS15 (PIK3R4) causes a ciliopathy and affects IFT20 release from the cis-Golgi
Ciliopathies are a group of diseases that affect kidney and retina among other organs. Here, we identify a missense mutation in PIK3R4 (phosphoinositide 3-kinase regulatory subunit 4, named VPS15) in a family with a ciliopathy phenotype. Besides being required for trafficking and autophagy, we show that VPS15 regulates primary cilium length in human fibroblasts, as well as ciliary processes in ...
متن کاملExpanding the genetics of microcephalic primordial dwarfism
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متن کامل3-M Syndrome / Primordial Dwarfism Panel
Numerous monogenic causes of growth disorders have been identified. Inheritance of most disorders covered by this panel is autosomal recessive, but familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome is considered to have autosomal dominant inheritance. This panel covers, but is not limited to, genes and disorders covered by the subpanels. and therefore enables ef...
متن کامل3-M Syndrome / Primordial Dwarfism Panel
Numerous monogenic causes of growth disorders have been identified. Inheritance of most disorders covered by this panel is autosomal recessive, but familial cutaneous telangiectasia and oropharyngeal predisposition cancer syndrome is considered to have autosomal dominant inheritance. This panel covers, but is not limited to, genes and disorders covered by the subpanels. and therefore enables ef...
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ژورنال
عنوان ژورنال: The American Journal of Human Genetics
سال: 2012
ISSN: 0002-9297
DOI: 10.1016/j.ajhg.2012.05.025