ABCMdb

PMID: 7876858

Vorgerd M, Fuchs S, Tegenthoff M, Malin JP
A missense point mutation (Ser515Phe) in the adrenoleukodystrophy gene in a family with adrenomyeloneuropathy: a clinical, biochemical, and genetic study.
J Neurol Neurosurg Psychiatry. 1995 Feb;58(2):229-31., [PubMed]

Sentences

No. Mutations Sentence Comment

32 ABCD1 p.Ser515Phe Direct sequencing of this particular segment showed a single nucleotide substitution (CI 930T) in the patient's sequence (fig 2), predicting the replacement of serine to phenylalanine at position 515 (Ser5 1 5Phe) in the deduced amino acid sequence of the ALD gene (numbering of nucleotides and amino acids to the ALD cDNA sequence as in Mosser et al 4). Login to comment 35 ABCD1 p.Ser515Phe As r515Phe) shown in fig 1 the Ser515Phe mutation could indred with also be detected in a heterozygous manner in and 6, wild the three female relatives of the patient-who zizygous loss also showed increased VLCFA concentra- (SerSI5Phe) tions but not in the unaffected father. Login to comment 55 ABCD1 p.Ser515Phe ABCD1 p.Ser515Phe 10 Molecular genetic analysis of the genomic DNA of the patient with AMN presented in this study detected a missense point mutation (C1930T) in exon 6 of the ALD gene that predicts the change of serine to phenylalanine at position 515 (Ser515Phe) in the deduced amino acid sequence. Login to comment 57 ABCD1 p.Ser515Phe If the Ser515Phe substitution found in the family was the only mutation present in the ALD gene, as our results suggest, it could be the likely cause of the disease. Login to comment 60 ABCD1 p.Ser515Phe Analysis of DNA of the patient's mother, maternal grandmother, and sister showed that they carry the ALD mutation Ser515Phe in a heterozygous manner. Login to comment 62 ABCD1 p.Ser515Phe Identification of the Ser515Phe mutation principally allows prenatal diagnosis of ALD or AMN. Login to comment 92 ABCD1 p.Ser515Phe adrenomyeloneuropathy: a clinical, adrenoleukodystrophy gene in a family with A missense point mutation (Ser515Phe) in the M Vorgerd, S Fuchs, M Tegenthoff and J P Malin doi: 10.1136/jnnp.58.2.229 1995 58: 229-231 J Neurol Neurosurg Psychiatry http://jnnp.bmj.com/content/58/2/229 Updated information and services can be found at: These include: service Email alerting box at the top right corner of the online article. Login to comment 94 ABCD1 p.Ser515Phe ABCD1 p.Ser515Phe with adrenomyeloneuropathy: a clinical, the adrenoleukodystrophy gene in a family A missense point mutation (Ser515Phe) in http://jnnp.bmj.com/content/58/2/229 Updated information and services can be found at: These include: References http://jnnp.bmj.com/content/58/2/229#related-urls Article cited in: service Email alerting the box at the top right corner of the online article. Login to comment