Detection of mutations in the ALD gene (ABCD1) in seven Italian families: Description of four novel mutations

The study describes the mutations causing adrenoleukodystrophy in seven Italian families. Four missense mutations leading to amino acid substitutions, two frameshift mutations leading to a premature termination signal, and a splicing mutation were identified. Mutations 2014C>T (P543L), 2053A>G...

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Bibliographic Details
Published in:Human mutation 2000-09, Vol.16 (3), p.271-271
Main Authors: Lira, M. Gomez, Mottes, M., Pignatti, P.F., Medica, I., Uziel, G., Cappa, M., Bertini, E., Rizzuto, N., Salviati, A.
Format: Article
Language:English
Subjects:
ABCD1
Addison disease
adrenoleukodystrophy
Adrenoleukodystrophy - enzymology
Adrenoleukodystrophy - genetics
adrenomyeloneuropathy
Adult
ALD
Amino Acid Substitution - genetics
AMN
ATP Binding Cassette Transporter, Sub-Family D, Member 1
ATP-Binding Cassette Transporters - genetics
Child
Coenzyme A Ligases - genetics
Exons - genetics
Female
Frameshift Mutation - genetics
Humans
Italy
Male
Membrane Proteins - genetics
Mutation - genetics
Mutation, Missense - genetics
Pedigree
Repressor Proteins
Saccharomyces cerevisiae Proteins
Sequence Analysis, DNA
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Summary:The study describes the mutations causing adrenoleukodystrophy in seven Italian families. Four missense mutations leading to amino acid substitutions, two frameshift mutations leading to a premature termination signal, and a splicing mutation were identified. Mutations 2014C>T (P543L), 2053A>G (Q556A), 673‐674insCC, and 1874+1G>A are described for the first time in this report. Mutations 1638C>T (R418W), 1588G>A(R401Q), and 1801‐1802delAG are already known to be link to ALD. Hum Mutat 16:271, 2000. © 2000 Wiley‐Liss, Inc.
ISSN:1059-7794
1098-1004
DOI:10.1002/1098-1004(200009)16:3<271::AID-HUMU15>3.0.CO;2-D