DMD exon 2 duplication due to a complex genomic rearrangement is associated with a somatic mosaicism

2021 ◽  
Author(s):  
Akatsuki Kubota ◽  
Hiroyuki Ishiura ◽  
Kristine Joyce Linay Porto ◽  
Masaki Tanaka ◽  
Jun Mitsui ◽  
...  
Keyword(s):  
Somatic Mosaicism ◽  
Genomic Rearrangement ◽  
Exon 2 ◽  
Complex Genomic Rearrangement

scholarly journals A Complex Genomic Rearrangement Involving the Endothelin 3 Locus Causes Dermal Hyperpigmentation in the Chicken

PLoS Genetics ◽  
2011 ◽  
Vol 7 (12) ◽  
pp. e1002412 ◽  
Author(s):  
Ben Dorshorst ◽  
Anna-Maja Molin ◽  
Carl-Johan Rubin ◽  
Anna M. Johansson ◽  
Lina Strömstedt ◽  
...  
Keyword(s):  
Genomic Rearrangement ◽  
Complex Genomic Rearrangement ◽  
Endothelin 3

Complex genomic rearrangement in SPG11 due to a DNA replication-based mechanism

2017 ◽  
Vol 32 (12) ◽  
pp. 1792-1794 ◽  
Author(s):  
Berivan Baskin ◽  
Lorraine V. Kalia ◽  
Brenda L. Banwell ◽  
Peter N. Ray ◽  
Grace Yoon
Keyword(s):  
Dna Replication ◽  
Genomic Rearrangement ◽  
Complex Genomic Rearrangement

A novel complex genomic rearrangement affecting the KCNJ2 regulatory region causes a variant of Cooks syndrome

2021 ◽  
Author(s):  
Luigia Cinque ◽  
Lucia Micale ◽  
Elena Manara ◽  
Andrea Esposito ◽  
Orazio Palumbo ◽  
...  
Keyword(s):  
Regulatory Region ◽  
Genomic Rearrangement ◽  
Complex Genomic Rearrangement ◽  
Novel Complex

Factor IX Chongqing: a New Mutation in the Calcium-Binding Domain of Factor IX Resulting in Severe Hemophilia B

1990 ◽  
Vol 63 (01) ◽  
pp. 024-026 ◽  
Author(s):  
N S Wang ◽  
M Zhang ◽  
A R Thompson ◽  
S-H Chen
Keyword(s):  
Calcium Binding ◽  
Somatic Mosaicism ◽  
Chinese Patient ◽  
Factor Ix ◽  
Hemophilia B ◽  
Severe Hemophilia ◽  
New Mutation ◽  
Exon 2 ◽  
Calcium Dependent ◽  
Gla Domain

SummaryA Chinese patient with sporadic, severe hemophilia B was found to have a low level of total factor IX antigen (3.5 U/dl), but less apparent antigen in an assay using a calcium-dependent antibody fraction (1.1 U/dl). This suggested a defect in the factor IX Gla domain coded mainly by exon 2 of the factor IX gene. Exon 2 was therefore amplified and sequenced. An A to T substitution was found at nucleotide 6455 of the patient’s factor IX gene. This transversion changes the codon for Glu 27 in normal factor IX to a codon for Val. Since Glu 27 becomes an essential Gla residue, the defect should result in altered calcium-binding or calcium-dependent conformation of the patient’s factor IX. The introduction of a hydrophobic side chain also appears to affect the hemophilic protein’s stability.In leukocyte DNA from the patient’s mother, the nucleotide sequence of exon 2 was entirely normal. Thus, barring somatic mosaicism within her germ cells, the new mutation occurred in oogenesis of her ovary.

scholarly journals Complex Genomic Rearrangement Within theGNASRegion Associated With Familial Pseudohypoparathyroidism Type 1b

2016 ◽  
Vol 101 (7) ◽  
pp. 2623-2627 ◽  
Author(s):  
Akie Nakamura ◽  
Erika Hamaguchi ◽  
Reiko Horikawa ◽  
Yasuyuki Nishimura ◽  
Keiko Matsubara ◽  
...  
Keyword(s):  
Genomic Rearrangement ◽  
Complex Genomic Rearrangement

scholarly journals Complex genomic rearrangement in CCS-LacZ transgenic mice

genesis ◽  
2007 ◽  
Vol 45 (2) ◽  
pp. 76-82 ◽  
Author(s):  
Dina Myers Stroud ◽  
Bruce J. Darrow ◽  
Sang Do Kim ◽  
Jie Zhang ◽  
Monique R.M. Jongbloed ◽  
...  
Keyword(s):  
Transgenic Mice ◽  
Genomic Rearrangement ◽  
Complex Genomic Rearrangement

Complex genomic rearrangement in theSOX95′ region in a patient with Pierre Robin sequence and hypoplastic left scapula

2012 ◽  
Vol 158A (7) ◽  
pp. 1529-1534 ◽  
Author(s):  
Maki Fukami ◽  
Takayoshi Tsuchiya ◽  
Shuji Takada ◽  
Akiko Kanbara ◽  
Hiroshi Asahara ◽  
...  
Keyword(s):  
Genomic Rearrangement ◽  
Pierre Robin Sequence ◽  
Complex Genomic Rearrangement ◽  
Robin Sequence ◽  
Pierre Robin ◽  
Left Scapula

Identification and characterisation of a novel aberrant pattern of intron 1 inversion with concomitant large insertion and deletion within the F8 gene

2014 ◽  
Vol 112 (08) ◽  
pp. 264-270 ◽  
Author(s):  
Guoling You ◽  
Kun Chi ◽  
Yeling Lu ◽  
Qiulan Ding ◽  
Jing Dai ◽  
...  
Keyword(s):  
Homologous Recombination ◽  
Copy Number Variations ◽  
Genomic Rearrangement ◽  
Causative Mutation ◽  
Template Switching ◽  
Insertion And Deletion ◽  
Complex Genomic Rearrangement ◽  
Intron 1 ◽  
Fork Stalling ◽  
Intron 1 Inversion

SummaryIntron 1 inversion (Inv1) is a recurrent causative mutation of haemophilia A (HA) and is responsible for 1–5% of severe HA. Inv1 occurs as a result of intra-chromosomal homologous recombination between int1h-1 within intron 1 and int1h-2 located in approximately 125 kb telomeric to the F8 gene. In this report, we presented a previously undescribed aberrant type of Inv1 with complex genomic rearrangement in a pedigree with severe HA. The breakpoints of the rearrangement were identified by the genome walking technique; copy number variations (CNVs) of the F8 gene and X chromosome were detected by AccuCopy technique, Affymetrix CytoScan HD CNV assay and quantitative PCR (qPCR); the F8 transcripts related to the aberrant Inv1 were analysed by reverse transcription PCR (RT-PCR). We have characterised the exact breakpoints of the complex rearrangement, and determined the location and size of the insertion and deletion. The rearrangements can be summarised as an aberrant pattern of Inv1 with a deletion of 2.56 kb and a duplication of 227.3 kb inserted in the rejoining junction within the F8 gene. Our results suggested that this complex genomic rearrangement was generated by two distinct repair mechanisms of fork stalling and template switching/microhomology-mediated break-induced replication (FoSTeS/MMBIR) and nonallelic homologous recombination (NAHR).

A sporadic breast tumor with a somatically acquired complex genomic rearrangement inBRCA1

2000 ◽  
Vol 27 (3) ◽  
pp. 295-302 ◽  
Author(s):  
Marco van der Looij ◽  
Anne-Marie Cleton-Jansen ◽  
Ronald van Eijk ◽  
Hans Morreau ◽  
Margreethe van Vliet ◽  
...  
Keyword(s):  
Breast Tumor ◽  
Genomic Rearrangement ◽  
Complex Genomic Rearrangement ◽  
Sporadic Breast Tumor
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