J Clin Neurol.  2015 Apr;11(2):197-199. 10.3988/jcn.2015.11.2.197.

PEX7 Mutations Cause Congenital Cataract Retinopathy and Late-Onset Ataxia and Cognitive Impairment: Report of Two Siblings and Review of the Literature

Affiliations
  • 1Unit of Genetics of Neurodegenerative and Metabolic Diseases, IRCCS Fondazione Istituto Neurologico Carlo Besta, Milano, Italy. mariotti.c@istituto-besta.it

Abstract

No abstract available.


MeSH Terms

Ataxia*
Cataract*
Humans
Siblings*

Reference

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2. Van den Brink DM, Brites P, Haasjes J, Wierzbicki AS, Mitchell J, Lambert-Hamill M, et al. Identification of PEX7 as the second gene involved in Refsum disease. Adv Exp Med Biol. 2003; 544:69–70.
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3. Braverman N, Chen L, Lin P, Obie C, Steel G, Douglas P, et al. Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype. Hum Mutat. 2002; 20:284–297.
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4. Jansen GA, Waterham HR, Wanders RJ. Molecular basis of Refsum disease: sequence variations in phytanoyl-CoA hydroxylase (PHYH) and the PTS2 receptor (PEX7). Hum Mutat. 2004; 23:209–218.
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5. Horn MA, van den Brink DM, Wanders RJ, Duran M, Poll-The BT, Tallaksen CM, et al. Phenotype of adult Refsum disease due to a defect in peroxin 7. Neurology. 2007; 68:698–700.
Article
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