Familial hypobetalipoproteinemia: Analysis by next generation sequencing and identification of a novel frameshift mutation in the apoB gene

2017 ◽  
Vol 27 (1) ◽  
pp. e25-e26
Author(s):  
V. Ingrassia ◽  
A. Zambon ◽  
R. Spina ◽  
S. Zambon ◽  
S. Bertocco ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Frameshift Mutation ◽  
Next Generation ◽  
Apob Gene ◽  
Familial Hypobetalipoproteinemia ◽  
Generation Sequencing

A novel homozygous frameshift mutation in the FUCA1 gene causes both severe and mild fucosidosis

2018 ◽  
Vol 71 (9) ◽  
pp. 821-824 ◽  
Author(s):  
Nasrollah Saleh-Gohari ◽  
Kolsoum Saeidi ◽  
Roya Zeighaminejad
Keyword(s):  
Next Generation Sequencing ◽  
Frameshift Mutation ◽  
Stop Codon ◽  
Premature Stop Codon ◽  
Gene Mutations ◽  
Next Generation ◽  
Lysosomal Storage ◽  
Illumina Hiseq ◽  
Almost All ◽  
Generation Sequencing

AimsFucosidosis is a rare autosomal recessive lysosomal storage disorder caused by α-L-fucosidase deficiency as a result of FUCA1 gene mutations. Here, we studied clinical features and the molecular basis of fucosidosis in a family from Iran, including two probands and nine family members.MethodsDNA sample of two probands were screened for gene defects using a next generation sequencing technique. The sequencing processes were performed on an Illumina Hiseq 4000 platform. Sequence reads were analysed using BWA-GATK.ResultsNext generation sequencing revealed a frameshift mutation caused by 2 bp deletion (c.837_838 delTG; p.Cys279) in the FUCA1 gene. The identified mutation was tested in all participants. Homozygous patients had almost all the complications associated with fucosidosis, while heterozygous carriers were unaffected.ConclusionsThe variant c.837_838 delTG; p.Cys279 has not been reported previously and is predicted to be pathogenic due to a premature stop codon.

scholarly journals First application of next-generation sequencing in Moroccan breast/ovarian cancer families and report of a novel frameshift mutation of the BRCA1 gene

2016 ◽  
Vol 12 (2) ◽  
pp. 1192-1196 ◽  
Author(s):  
Farah Jouali ◽  
Fatima-Zahra Laarabi ◽  
Nabila Marchoudi ◽  
Ilham Ratbi ◽  
Siham Chafai Elalaoui ◽  
...  
Keyword(s):  
Ovarian Cancer ◽  
Next Generation Sequencing ◽  
Frameshift Mutation ◽  
Brca1 Gene ◽  
Next Generation ◽  
Generation Sequencing

scholarly journals Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3

2010 ◽  
Vol 19 (1) ◽  
pp. 115-117 ◽  
Author(s):  
Kimia Kahrizi ◽  
Cougar Hao Hu ◽  
Masoud Garshasbi ◽  
Seyedeh Sedigheh Abedini ◽  
Shirin Ghadami ◽  
...  
Keyword(s):  
Next Generation Sequencing ◽  
Autosomal Recessive ◽  
Frameshift Mutation ◽  
Next Generation ◽  
Generation Sequencing
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