ABCD1 p.Leu160Pro
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PMID: 17662307
[PubMed]
Sutovsky S et al: "Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene."
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Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene Stanislav Šutovský a , Robert Petrovič b , Jan Chandoga b , Peter Turčáni a,⁎ a Department of Neurology, Comenius University, Bratislava, Slovakia b Department of Genetics, University Hospital, Bratislava, Slovakia Received 25 September 2006; received in revised form 23 December 2006; accepted 23 January 2007 Available online 26 July 2007 Abstract Background: X-linked adrenoleukodystrophy is a genetically determined disorder that causes varying degrees of malfunction of the adrenal cortex and central nervous system and is characterized by abnormally high levels of very long chain fatty acid in tissues and body fluids.
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ABCD1 p.Leu160Pro 17662307:0:103
status: NEW7 Clinical findings referred to adrenoleukodystrophy, consecutively performed genetic analyses showed missense mutation at the codon 479 (TNC) in exon 1 of ABCD 1 gene, predicting the substitution L160P in ALD protein.
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ABCD1 p.Leu160Pro 17662307:7:195
status: NEW10 Genetic tests revealed a new mutation at position L160P in ALD protein.
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ABCD1 p.Leu160Pro 17662307:10:50
status: NEW12 Keywords: X-linked adrenoleukodystrophy; L160P mutation in ABCD1 gene 1.
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ABCD1 p.Leu160Pro 17662307:12:41
status: NEW53 Sequence analysis of the ABCD1 mutant allele in proband revealed a novel mutation c.479TNC predicting the substitution L160P (Fig. 1), his mother was heterozygous for this mutation.
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ABCD1 p.Leu160Pro 17662307:53:119
status: NEW61 Sequence determination of c.479TNC (Leu160Pro) mutation of the X-ALD gene.
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ABCD1 p.Leu160Pro 17662307:61:36
status: NEW63 stepwise deterioration of intellect and affiliated motor symptoms with biochemically confirmed X-ALD and a novel mutation L160P in ABCD1 gene.
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ABCD1 p.Leu160Pro 17662307:63:122
status: NEW78 Analysis of the X-ADL gene (ABCD1) showed a missense mutation at the codon 479 (TNC) in exon 1, predicting the substitution L160P in ALD protein.
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ABCD1 p.Leu160Pro 17662307:78:124
status: NEW101 We found in this patient a new mutation in ABCD1 gene, at position L160P.
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ABCD1 p.Leu160Pro 17662307:101:67
status: NEW77 Analysis of the X-ADL gene (ABCD1) showed a missense mutation at the codon 479 (TNC) in exon 1, predicting the substitution L160P in ALD protein.
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ABCD1 p.Leu160Pro 17662307:77:124
status: NEW100 We found in this patient a new mutation in ABCD1 gene, at position L160P.
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ABCD1 p.Leu160Pro 17662307:100:67
status: NEW
PMID: 24719134
[PubMed]
Park HJ et al: "Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy."
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The Mutational Analysis of Korean Patients with Adrenomyeloneuropathy Exon Mutation Allele Type Reference Adrenomyeloneuropathy without cerebral involvement 1 1 c.479T>C p.Leu160Pro Missense Sutovsk&#fd;, et al.13 2 3 c.1166G>A p.Arg389His Missense Kok, et al.14 3 9 c.1970_72del p.Ile657del In-frame deletion Ligtenberg, et al.15 4 1 c.421G>A p.Ala141Thr Missense Kok, et al.14 5 Not found 6 7 c.1679C>T p.Pro560Leu Missense Kemp, et al.6 7 Not available Adrenomyeloneuropathy with cerebral involvement 8 7 c.1679C>T p.Pro560Leu Missense Kemp, et al.6 9 1 c.225_242del p.Trp77_Leu82del Deletion Lee, et al.9 Spinocerebellar phenotype 10 1 c.277_296dup20 p.Leu93fs Frameshift Novel 11 7 c.1661G>A p.Arg554His Missense Kemp, et al.6 12 IVS1 c.901-1G>A p.Val301fs Frameshift Kemp, et al.6 IVS, intervening sequence.
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ABCD1 p.Leu160Pro 24719134:89:172
status: NEW