scholarly journals A Large Intragenic Deletion in the ACADM Gene Can Cause MCAD Deficiency but is not Detected on Routine Sequencing

2013 ◽  
pp. 13-16 ◽  
Author(s):  
Claire Searle ◽  
Brage Storstein Andresen ◽  
Ed Wraith ◽  
Jamie Higgs ◽  
Deborah Gray ◽  
...  
Keyword(s):  
Mcad Deficiency ◽  
Intragenic Deletion

scholarly journals Genotype and residual enzyme activity in medium‐chain acyl‐CoA dehydrogenase ( MCAD ) deficiency: Are predictions possible?

2021 ◽  
Author(s):  
Sara Tucci ◽  
Christine Wagner ◽  
Sarah C. Grünert ◽  
Uta Matysiak ◽  
Natalie Weinhold ◽  
...  
Keyword(s):  
Enzyme Activity ◽  
Residual Enzyme Activity ◽  
Mcad Deficiency ◽  
Medium Chain ◽  
Chain Acyl

scholarly journals Novel SPTBN2 gene mutation and first intragenic deletion in early onset spinocerebellar ataxia type 5

2021 ◽  
Vol 8 (4) ◽  
pp. 956-963
Author(s):  
Romina Romaniello ◽  
Andrea Citterio ◽  
Elena Panzeri ◽  
Filippo Arrigoni ◽  
Marta De Rinaldis ◽  
...  
Keyword(s):  
Gene Mutation ◽  
Spinocerebellar Ataxia ◽  
Early Onset ◽  
Spinocerebellar Ataxia Type ◽  
Intragenic Deletion

An intragenic deletion/inversion event in the DMD gene determines a novel exon creation and results in a BMD phenotype

2004 ◽  
Vol 115 (1) ◽  
pp. 13-18 ◽  
Author(s):  
Rachele Cagliani ◽  
Manuela Sironi ◽  
Emma Ciafaloni ◽  
Alessandra Bardoni ◽  
Francesco Fortunato ◽  
...  
Keyword(s):  
Inversion Event ◽  
Intragenic Deletion ◽  
Dmd Gene ◽  
Novel Exon

IDS gene-pseudogene exchange responsible for an intragenic deletion in a hunter patient

1996 ◽  
Vol 8 (1) ◽  
pp. 44-50 ◽  
Author(s):  
Anne-Marie Birot ◽  
Olivier Bouton ◽  
Roseline Froissart ◽  
Irène Maire ◽  
Dominique Bozon
Keyword(s):  
Intragenic Deletion

Rubinstein-Taybi syndrome and Hirschsprung disease in a patient harboring an intragenic deletion of the CREBBP gene

2010 ◽  
Vol 152A (7) ◽  
pp. 1847-1848 ◽  
Author(s):  
B. Isidor ◽  
G. Podevin ◽  
C. Camby ◽  
J.-F. Mosnier ◽  
A. Chauty ◽  
...  
Keyword(s):  
Hirschsprung Disease ◽  
Intragenic Deletion ◽  
Crebbp Gene

scholarly journals LGG-28. NOVEL BRAF INTRAGENIC DELETION IN A GLIOMA: A CASE REPORT OF A PEDIATRIC PATIENT

2020 ◽  
Vol 22 (Supplement_3) ◽  
pp. iii371-iii372
Author(s):  
Valerie Cruz Flores ◽  
Maxine Sutcliffe ◽  
Thomas Geller ◽  
Ignacio Gonzalez Gomez ◽  
Stephanie Smith ◽  
...  
Keyword(s):  
Pediatric Patient ◽  
Pilocytic Astrocytoma ◽  
Pediatric Population ◽  
Binding Pocket ◽  
Genetic Alterations ◽  
Low Grade ◽  
Braf Gene ◽  
Intragenic Deletion ◽  
Whole Genome Microarray ◽  
Intragenic Deletions

Abstract BACKGROUND Numerous variant BRAF genetic alterations have been associated with malignancies. BRAF activating fusions/mutations are frequently present in low grade gliomas. BRAF intragenic deletions have been reported in melanoma, but have not previously been reported in gliomas. OBJECTIVE To report a BRAF intragenic deletion in a pediatric patient with recurrent low-grade glioma. RESULTS A 3-year-old female underwent a complete resection of a posterior fossa pilocytic astrocytoma. She had recurrences at age 4, and then at age 9; pathology was consistent with pilocytic astrocytoma. Microarray analysis on sample from the first recurrence showed one region of loss encompassing 86 Kbp within the BRAF gene. The deletion breakpoints are within intron 1 and 9, resulting in loss of exons 2 through 9, inclusive. This has been previously described melanoma, but appears to be a novel finding in glioma. It is hypothesized that, since the loss retains the kinase and ATP binding pocket domains but deletes the N-terminal conserved region 1 and 2 (CR1, CR2) of the BRAF gene, it is likely functionally similar to the loss and activation resulting from the more usually described KIAA1549 and BRAF gene fusion. CONCLUSION This is the first BRAF intragenic deletion involving exons 2–9 reported in a glioma. Although 86kbp is small using whole genome microarray technology, it is large using sequencing strategies, and a targeted sequencing approach to investigate the BRAF gene would not readily identify this deletion. It is speculated that the deletion may be under ascertained in the pediatric population.

scholarly journals Identification of the first intragenic deletion of the PITX2 gene causing an Axenfeld-Rieger Syndrome: case report

2006 ◽  
Vol 7 (1) ◽  
Author(s):  
Guillaume de la Houssaye ◽  
Ivan Bieche ◽  
Olivier Roche ◽  
Véronique Vieira ◽  
Ingrid Laurendeau ◽  
...  
Keyword(s):  
Case Report ◽  
Rieger Syndrome ◽  
Intragenic Deletion ◽  
Pitx2 Gene

Structure of the human retinoblastoma-related p107 gene and its intragenic deletion in a B-cell lymphoma cell line

Gene ◽  
2000 ◽  
Vol 251 (1) ◽  
pp. 37-43 ◽  
Author(s):  
Koichi Ichimura ◽  
Hiroko Hanafusa ◽  
Hidetaka Takimoto ◽  
Yoichiro Ohgama ◽  
Tadaatsu Akagi ◽  
...  
Keyword(s):  
B Cell ◽  
Cell Line ◽  
Cell Lymphoma ◽  
B Cell Lymphoma ◽  
Lymphoma Cell ◽  
Lymphoma Cell Line ◽  
Intragenic Deletion ◽  
Human Retinoblastoma
Sign in / Sign up

Export Citation Format

Share Document