Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.
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| Abstract |
Fatty acid hydroxylase-associated neurodegeneration due to fatty acid 2-hydroxylase deficiency presents with a wide range of phenotypes including spastic paraplegia, leukodystrophy, and/or brain iron deposition. All previously described families with this disorder were consanguineous, with homozygous mutations in the probands. We describe a 10-year-old male, from a non-consanguineous family, with progressive spastic paraplegia, dystonia, ataxia, and cognitive decline associated with a sural axonal neuropathy. The use of high-throughput sequencing techniques combined with SNP array analyses revealed a novel paternally derived missense mutation and an overlapping novel maternally derived ~28-kb genomic deletion in FA2H. This patient provides further insight into the consistent features of this disorder and expands our understanding of its phenotypic presentation. The presence of a sural nerve axonal neuropathy had not been previously associated with this disorder and so may extend the phenotype.
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| Authors | Tyler Mark Pierson, Dimitre R Simeonov, Murat Sincan, David A Adams, Thomas Markello, Gretchen Golas, Karin Fuentes-Fajardo, Nancy F Hansen, Praveen F Cherukuri, Pedro Cruz, James C Mullikin, Craig Blackstone, Cynthia Tifft, Cornelius F Boerkoel, William A Gahl, NISC Comparative Sequencing Program |
| Journal | European journal of human genetics : EJHG (Eur J Hum Genet) Vol. 20 Issue 4 Pg. 476-9 (Apr 2012) ISSN: 1476-5438 [Electronic] England |
| PMID | 22146942 (Publication Type: Case Reports, Journal Article, Research Support, N.I.H., Extramural, Research Support, N.I.H., Intramural) |
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