Novel exon nucleotide deletion causes adrenoleukodystrophy in a Brazilian family.

[adrenomyeloneuropathy]

Adrenoleukodystrophy is a neurodegenerative X-linked recessive disorder . It is characterized by abnormal function of peroxisomes , which leads to an accumulation of very long -chain fatty acids in plasma and tissues , especially in the cortex of adrenal glands and white matter of the central nervous system , causing demyelinating disease and adrenocortical insufficiency (Addison 's disease ). It is caused by a mutation in the ABCD 1 gene (ATP-binding cassette , subfamily D , member 1 ), which encodes the protein adrenoleukodystrophy that is involved in the transport of fatty acids into the peroxisome for degradation . Variable expression has been recognized in families of patients 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 adrenomyeloneuropathy , adrenocortical insufficiency and a stable cerebral form . DNA was extracted from a blood sample and was sequenced to identify the mutation . The patient 's exons were cloned for confirmation . A new mutation was found in exon 5 of the ABCD 1 gene (c .1430 delA ), 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 ATP binding domain .

Diseases
Validation

Diseases presenting "almost total absence of the atp binding domain" symptom

adrenomyeloneuropathy

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