ABCD1 p.Leu160Pro
| Predicted by SNAP2: | A: D (53%), C: N (57%), D: D (80%), E: D (71%), F: D (63%), G: D (75%), H: D (71%), I: N (87%), K: D (71%), M: N (72%), N: D (71%), P: D (80%), Q: D (53%), R: D (71%), S: D (66%), T: D (66%), V: N (72%), W: D (71%), Y: D (71%), |
| Predicted by PROVEAN: | A: D, C: D, D: D, E: D, F: D, G: D, H: D, I: N, K: D, M: N, N: D, P: D, Q: D, R: D, S: D, T: D, V: D, W: D, Y: D, |
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[hide] Adult onset cerebral form of X-linked adrenoleukod... J Neurol Sci. 2007 Dec 15;263(1-2):149-53. Epub 2007 Jul 26. Sutovsky S, Petrovic R, Chandoga J, Turcani P
Adult onset cerebral form of X-linked adrenoleukodystrophy with dementia of frontal lobe type with new L160P mutation in ABCD1 gene.
J Neurol Sci. 2007 Dec 15;263(1-2):149-53. Epub 2007 Jul 26., [PMID:17662307]
Abstract [show]
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. The gene ABCD1, responsible for X-ALD, has been mapped on chromosome Xq28. More than 500 different mutations have been reported but no correlation between genotype and phenotype has been found. OBJECTIVES: To investigate the occurrence of known or new mutations in the ABCD1 gene in patients with clinically and biochemical proven adrenoleukodystrophy. PATIENT AND METHODS: A 37-year-old patient with history of one-year progression of personality and behavioral changes such as, fluctuation of apathy and euphoria, perseveration, bizarre affect, and general disengagement, preliminarily assessed as adrenoleukodystrophy has undergone a clinical, biochemical and genetic examination in order to confirm the diagnosis and discover a possible mutation. RESULTS: The clinical examination has shown signs of the severe prefrontal syndrome, and a neurological examination disclosed deliberation signs and a spastic quadruparesis predominantly on the lower extremities. MRIs showed confluent hyperintensive lesions in T2 and FLAIR images in both hemispheres with severe progression over 6 to 12 months. Clinical findings referred to adrenoleukodystrophy, consecutively performed genetic analyses showed missense mutation at the codon 479 (T>C) in exon 1 of ABCD 1 gene, predicting the substitution L160P in ALD protein. The same mutation has also been found in patient's mother. CONCLUSION: We examined a patient with progressive development of early onset frontal lobe type dementia and upper motor neuron signs in which neuroimaging methods and biochemical tests refer to adrenoleukodystrophy. Genetic tests revealed a new mutation at position L160P in ALD protein.
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No. Sentence Comment
0 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[hide] Clinical and genetic aspects in twelve Korean pati... Yonsei Med J. 2014 May;55(3):676-82. doi: 10.3349/ymj.2014.55.3.676. Epub 2014 Apr 1. Park HJ, Shin HY, Kang HC, Choi BO, Suh BC, Kim HJ, Choi YC, Lee PH, Kim SM
Clinical and genetic aspects in twelve Korean patients with adrenomyeloneuropathy.
Yonsei Med J. 2014 May;55(3):676-82. doi: 10.3349/ymj.2014.55.3.676. Epub 2014 Apr 1., [PMID:24719134]
Abstract [show]
PURPOSE: This study was designed to investigate the characteristics of Korean adrenomyeloneuropathy (AMN) patients. MATERIALS AND METHODS: We retrospectively selected 12 Korean AMN patients diagnosed by clinical analysis and increased plasma content of very long chain fatty acids. RESULTS: All 12 patients were men. Patient ages at symptom onset ranged from 18 to 55 years. Family history was positive in two patients. The phenotype distributions consisted of AMN without cerebral involvement in seven patients, AMN with cerebral involvement in two patients, and the spinocerebellar phenotype in three patients. Nerve conduction studies revealed abnormalities in four patients and visual evoked tests revealed abnormalities in three patients. Somatosensory evoked potential tests revealed central conduction defects in all of the tested patients. Spinal MRI showed diffuse cord atrophy or subtle signal changes in all 12 patients. Brain MRI findings were abnormal in six of the nine tested patients. These brain abnormalities reflected the clinical phenotypes. Mutational analysis identified nine different ABCD1 mutations in 10 of 11 tested patients. Among them, nine have been previously reported and shown to be associated with various phenotypes; one was a novel mutation. CONCLUSION: In conclusion, the present study is the first to report on the clinical and mutational spectrum of Korean AMN patients, and confirms various clinical presentations and the usefulness of brain MRI scan.
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No. Sentence Comment
89 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