Article
Exome sequencing and SNP analysis detect novel compound heterozygosity in fatty acid hydroxylase-associated neurodegeneration.
European journal of human genetics : EJHG - 1 Apr 2012
Pierson Tyler Mark, Simeonov Dimitre R, Sincan Murat, Adams David A, Markello Thomas, Golas Gretchen, Fuentes-Fajardo Karin, Hansen Nancy F, Cherukuri Praveen F, Cruz Pedro, Mullikin James C, Blackstone Craig, Tifft Cynthia, Boerkoel Cornelius F, Gahl William A
Abstract excerpt
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...
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