Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia.
Summary of "Screening for mutations in the phosphatidylinositol 4-kinase 2-alpha gene in autosomal recessive hereditary spastic paraplegia."
Abstract Numerous genes causing autosomal recessive hereditary spastic paraplegia (AR HSP) have been described. Despite this, in many families the causative gene and mutation are unknown. In this study we sequenced the Pi4k2a gene, whose knockout has been shown to cause a typical HSP model in mice, in 24 index cases of autosomal recessive HSP not known to be linked to any other HSP locus. No pathogenic changes were identified in exons or splice sites, suggesting the Pi4k2a gene may not be a cause of AR HSP in humans.
Affiliation
UCL Institute of Neurology, University College, London.
Journal Details
This article was published in the following journal.
Name: Amyotrophic lateral sclerosis : official publication of the World Federation of Neurology Research Group on Motor Neuron Disease
ISSN: 1471-180X
Pages:
Links
- PubMed Source: http://www.ncbi.nlm.nih.gov/pubmed/21190509
- DOI: http://dx.doi.org/10.3109/17482968.2010.543689
Medical and Biotech [MESH] Definitions
Mevalonate Kinase Deficiency
Autosomal recessive disorder caused by mutations in the mevalonate kinase gene. Because of the mutations cholesterol biosynthesis is disrupted and MEVALONIC ACID accumulates. It is characterized by a range of symptoms, including dysmorphic FACIES, psychomotor retardation, CATARACT, hepatosplenomegaly, CEREBELLAR ATAXIA, elevated IMMUNOGLOBULIN D, and recurrent febrile crises with FEVER; LYMPHADENOPATHY; ARTHRALGIA; EDEMA; and rash.
Ectodermal Dysplasia, Hypohidrotic, Autosomal Recessive
An autosomal recessive form of ectodermal dysplasia which is due to mutations in the gene for the EDAR RECEPTOR or EDAR-ASSOCIATED DEATH DOMAIN PROTEIN.
Phosphatidylinositol 3-kinase
A phosphatidylinositol 3-kinase that catalyzes the conversion of 1-phosphatidylinositol into 1-phosphatidylinositol 3-phosphate.
Dent Disease
X-linked recessive NEPHROLITHIASIS characterized by HYPERCALCIURIA; HYPOPHOSPHATEMIA; NEPHROCALCINOSIS; and PROTEINURIA. It is associated with mutations in the voltage-gated chloride channel, CLC-5 (Dent Disease I). Another group of mutations associated with this disease is in phosphatidylinositol 4,5-bisphosphate-5-phosphatase gene.
1-phosphatidylinositol 3-kinase
An enzyme that catalyzes the conversion of phosphatidylinositol to phosphatidylinositol 3-phosphate. This is the first committed step in the biosynthesis of phosphatidylinositol 3,4-bisphosphate and phosphatidylinositol 3,4,5-trisphosphate. This pathway is thought to play a critical role in DNA repair, V(D)J recombination and cell cycle checkpoints. EC 2.7.1.137.
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