Novel exon nucleotide deletion causes XXXX in a Brazilian family.

@entity1 @entity17 @entity72658 @entity1112 @entity149 @entity24382 @entity5343 @entity1718 @entity8019 @entity855
@entity8019 is a neurodegenerative @entity1112 . It is characterized by abnormal function of peroxisomes, which leads to an accumulation of very long-chain @entity1718 in plasma and tissues, especially in the cortex of @entity149 , causing @entity17 and @entity5343 ( @entity5343 ). It is caused by a mutation in the @entity24382 gene ( @entity855 -binding cassette, subfamily D, member 1), which encodes the protein @entity8019 that is involved in the transport of @entity1718 into the peroxisome for degradation. Variable expression has been recognized in families of @entity1 who have this disease. A Brazilian family from Minas Gerais State, Brazil, was studied. The proband is an adult living in Minas Gerais State, Brazil; he had @entity8019 , @entity5343 and a stable cerebral form. DNA was extracted from a blood sample and was sequenced to identify the mutation. The @entity1 's exons were cloned for confirmation. A new mutation was found in exon 5 of the @entity24382 gene ( @entity72658 ), as well as a single-nucleotide polymorphism in exon 6. The mutation causes a frame shift, resulting in a truncated protein with almost total absence of the @entity855 binding domain.
