scholarly journals Genomic Profiling Identifies Novel Mutations and SNPs in ABCD1 Gene: A Molecular, Biochemical and Clinical Analysis of X-ALD Cases in India

PLoS ONE ◽  
2011 ◽  
Vol 6 (9) ◽  
pp. e25094 ◽  
Author(s):  
Neeraj Kumar ◽  
Krishna Kant Taneja ◽  
Veena Kalra ◽  
Madhuri Behari ◽  
Satinder Aneja ◽  
...  
Keyword(s):  
Clinical Analysis ◽  
Genomic Profiling ◽  
Novel Mutations ◽  
Abcd1 Gene

Novel ABCD1 gene mutations in Iranian pedigrees with X-linked adrenoleukodystrophy

2019 ◽  
Vol 32 (11) ◽  
pp. 1207-1215
Author(s):  
Babak Emamalizadeh ◽  
Yousef Daneshmandpour ◽  
Abbas Tafakhori ◽  
Sakineh Ranji-Burachaloo ◽  
Sajad Shafiee ◽  
...  
Keyword(s):  
Protein Structure ◽  
Direct Sequencing ◽  
Gene Mutations ◽  
Protein Product ◽  
Structure And Function ◽  
Novel Mutations ◽  
Chain Reaction ◽  
Abcd1 Gene ◽  
Polymerase Chain ◽  
And Function

Abstract Background X-linked adrenoleukodystrophy (X-ALD), the most common peroxisomal disorder, is caused by mutations in the ABCD1 gene located on Xq28. X-ALD is characterized by a spectrum of different manifestations varying in patients and families. Methods Four pedigrees with X-ALD consisting of patients and healthy members were selected for investigation of ABCD1 gene mutations. The mutation analysis was performed by polymerase chain reaction (PCR) followed by direct sequencing of all exons. The identified mutations were investigated using bioinformatics tools to predict their effects on the protein product and also to compare the mutated sequence with close species. Results One previously known missense mutation (c.1978 C > T) and three novel mutations (c.1797dupT, c.879delC, c.1218 C > G) were identified in the ABCD1 gene, each in one family. Predicting the effects of the mutations on protein structure and function indicated the probable damaging effect for them with significant alterations in the protein structure. We found three novel mutations in the ABCD1 gene with damaging effects on its protein product and responsible for X-ALD.

scholarly journals Genomic Profiling of a Large Set of Diverse Pediatric Cancers Identifies Known and Novel Mutations across Tumor Spectra

2017 ◽  
Vol 77 (2) ◽  
pp. 509-519 ◽  
Author(s):  
Juliann Chmielecki ◽  
Mark Bailey ◽  
Jie He ◽  
Julia Elvin ◽  
Jo-Anne Vergilio ◽  
...  
Keyword(s):  
Large Set ◽  
Genomic Profiling ◽  
Novel Mutations ◽  
Pediatric Cancers

Eight novel mutations in the ABCD1 gene and clinical characteristics of 25 Chinese patients with X-linked adrenoleukodystrophy

2015 ◽  
Vol 11 (4) ◽  
pp. 366-373 ◽  
Author(s):  
Shan-Shan Chu ◽  
Jun Ye ◽  
Hui-Wen Zhang ◽  
Lian-Shu Han ◽  
Wen-Juan Qiu ◽  
...  
Keyword(s):  
Clinical Characteristics ◽  
Chinese Patients ◽  
Novel Mutations ◽  
Abcd1 Gene

Molecular characterization of 21 X-ALD Portuguese families: identification of eight novel mutations in the ABCD1 gene

2002 ◽  
Vol 76 (1) ◽  
pp. 62-67 ◽  
Author(s):  
Carla P Guimarães ◽  
Manuela Lemos ◽  
Clara Sá-Miranda ◽  
Jorge E Azevedo
Keyword(s):  
Molecular Characterization ◽  
Novel Mutations ◽  
Abcd1 Gene

scholarly journals Clinical, Neuroimaging, Biochemical, and Genetic Features in Six Chinese Patients with Adrenomyeloneuropathy

2019 ◽  
Author(s):  
Jie Li ◽  
Hongfen Wang ◽  
Zizi He ◽  
Xiangqing Wang ◽  
Jing Tang ◽  
...  
Keyword(s):  
Plasma Levels ◽  
De Novo ◽  
Brain Mri ◽  
Positive Family History ◽  
Clinical Analysis ◽  
The Other ◽  
Chinese Patients ◽  
De Novo Mutation ◽  
Abcd1 Gene ◽  
Genetic Features

Abstract Background Adrenoleukodystrophy is a rare neurogenetic disease, AMN is the most common adult phenotype, such patients in China have not gotten enough attention.This article aims to study the features of AMN in Chinese patients and expand the gene spectrum of Chinese X-linked adrenoleukodystrophy (X-ALD) patients. Methods We applied clinical analysis, radiology, plasma levels of very long chain fatty acids (VLCFA) and genetic analysis to test the 6 Chinese AMN patients. Results All 6 patients are men. Ages of neurological symptom onset are distributed between 21 and 38. Sexual dysfunction occurred in 5 of 6 patients. Three patients had positive family history. Five patients had Addison's disease. Four patients were diagnosed as pure AMN, while the other two patients were with cerebral involvement. Four patients had abnormalities of nerve conduction studies. There were four patients with central conduction defects in somatosensory evoked potential tests. All 6 patients were found diffuse cord atrophy in spinal MRI. Brain MRI showed abnormal signals in 2 of the 6 tested patients, which indicated the clinical phenotypes. Plasma levels of VLCFA, as well as C24:0/C22:0 and C26:0/C22:0 ratios were elevated in 5 tested patients. Five different ABCD1 mutations were identified in 5 tested patients, one of which was a de novo mutation, and the other four have been reported previously. Conclusion This research described the clinical, neuroimaging, biochemical, and genetic sides of Chinese AMN patients. A de novo mutation in the ABCD1 gene sequence was identified. Emotional trauma may trigger or aggravate the development of cerebral demyelination in AMN patients. Regular evaluation of brain MRI is important for AMN patients, especially for ‘pure AMN’ patients. When encountering patients with ‘myeloneuropathy-only’, neurologists should not ignore the tests of VLCFA or/and the ABCD1 gene.

scholarly journals C2orf71 Mutations as a Frequent Cause of Autosomal-Recessive Retinitis Pigmentosa: Clinical Analysis and Presentation of 8 Novel Mutations

2017 ◽  
Vol 58 (10) ◽  
pp. 3840 ◽  
Author(s):  
Christina Gerth-Kahlert ◽  
Amit Tiwari ◽  
James V. M. Hanson ◽  
Vaishnavi Batmanabane ◽  
Elias Traboulsi ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Recessive ◽  
Clinical Analysis ◽  
Novel Mutations

scholarly journals Clinical, neuroimaging, biochemical, and genetic features in six Chinese patients with Adrenomyeloneuropathy

BMC Neurology ◽  
2019 ◽  
Vol 19 (1) ◽  
Author(s):  
Jie Li ◽  
Hongfen Wang ◽  
Zizi He ◽  
Xiangqing Wang ◽  
Jing Tang ◽  
...  
Keyword(s):  
Plasma Levels ◽  
De Novo ◽  
Brain Mri ◽  
Positive Family History ◽  
Clinical Analysis ◽  
The Other ◽  
Chinese Patients ◽  
De Novo Mutation ◽  
Abcd1 Gene ◽  
Genetic Features

Abstract Background Adrenoleukodystrophy is a rare neurogenetic disease, AMN is the most common adult phenotype, such patients in China have not gotten enough attention. This article aims to study the features of AMN in Chinese patients and expand the gene spectrum of Chinese X-linked adrenoleukodystrophy (X-ALD) patients. Methods We applied clinical analysis, radiology, plasma levels of very long chain fatty acids (VLCFA) and genetic analysis to test the 6 Chinese AMN patients. Results All 6 patients are men. Ages of neurological symptom onset are distributed between 21 and 38. Sexual dysfunction occurred in 5 of 6 patients. Three patients had positive family history. Five patients had Addison’s disease. Four patients were diagnosed as pure AMN, while the other two patients were with cerebral involvement. Four patients had abnormalities of nerve conduction studies. There were four patients with central conduction defects in somatosensory evoked potential tests. All 6 patients were found diffuse cord atrophy in spinal MRI. Brain MRI showed abnormal signals in 2 of the 6 tested patients, which indicated the clinical phenotypes. Plasma levels of VLCFA, as well as C24:0/C22:0 and C26:0/C22:0 ratios were elevated in 5 tested patients. Five different ABCD1 mutations were identified in 5 tested patients, one of which was a de novo mutation, and the other four have been reported previously. Conclusion This research described the clinical, neuroimaging, biochemical, and genetic sides of Chinese AMN patients. A de novo mutation in the ABCD1 gene sequence was identified. Emotional trauma may trigger or aggravate the development of cerebral demyelination in AMN patients. Regular evaluation of brain MRI is important for AMN patients, especially for ‘pure AMN’ patients. When encountering patients with ‘myeloneuropathy-only’, neurologists should not ignore the tests of VLCFA or/and the ABCD1 gene.

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