Genomic and Cytogenetic Characterization of a Balanced Translocation Disrupting NUP98

2017 ◽  
Vol 152 (3) ◽  
pp. 117-121
Author(s):  
My Linh Thibodeau ◽  
Michelle Steinraths ◽  
Lindsay Brown ◽  
Zheyuan Zong ◽  
Naomi Shomer ◽  
...  
Keyword(s):  
De Novo Assembly ◽  
De Novo ◽  
Chromosome Rearrangement ◽  
Healthy Woman ◽  
Asian Woman ◽  
Balanced Translocation ◽  
Gene Desert ◽  
Fusion Event ◽  
Translocation Breakpoints

A 41-year-old Asian woman with bilateral renal angiomyolipomas (AML) was incidentally identified to have a balanced translocation, 46,XX,t(11;12)(p15.4;q15). She had no other features or family history to suggest a diagnosis of tuberous sclerosis. Her healthy daughter had the same translocation and no renal AML at the age of 3 years. Whole-genome sequencing was performed on genomic maternal DNA isolated from blood. A targeted de novo assembly was then conducted with ABySS for chromosomes 11 and 12. Sanger sequencing was used to validate the translocation breakpoints. As a result, genomic characterization of chromosomes 11 and 12 revealed that the 11p breakpoint disrupted the NUP98 gene in intron 1, causing a separation of the promoter and transcription start site from the rest of the gene. The translocation breakpoint on chromosome 12q was located in a gene desert. NUP98 has not yet been associated with renal AML pathogenesis, but somatic NUP98 alterations are recurrently implicated in hematological malignancies, most often following a gene fusion event. We also found evidence for complex structural events involving chromosome 12, which appear to disrupt the TDG gene. We identified a TDGP1 partially processed pseudogene at 12p12.1, which adds complexity to the de novo assembly. In conclusion, this is the first report of a germline constitutional structural chromosome rearrangement disrupting NUP98 that occurred in a generally healthy woman with bilateral renal AML.

Two Novel Cases of Autosomal Translocations in the Horse: Warmblood Family Segregating t(4;30) and a Cloned Arabian with a de novo t(12;25)

2020 ◽  
Vol 160 (11-12) ◽  
pp. 688-697
Author(s):  
Sharmila Ghosh ◽  
Candice F. Carden ◽  
Rytis Juras ◽  
Mayra N. Mendoza ◽  
Matthew J. Jevit ◽  
...  
Keyword(s):  
Somatic Cell Nuclear Transfer ◽  
Nuclear Transfer ◽  
Congenital Abnormalities ◽  
Assisted Reproductive Technologies ◽  
De Novo ◽  
Reproductive Technologies ◽  
Balanced Translocation ◽  
Translocation Breakpoints ◽  
Normal Offspring ◽  
Embryonic Death

We report 2 novel autosomal translocations in the horse. In Case 1, a breeding stallion with a balanced t(4p;30) had produced normal foals and those with congenital abnormalities. Of his 9 phenotypically normal offspring, 4 had normal karyotypes, 4 had balanced t(4p;30), and 1 carried an unbalanced translocation with tertiary trisomy of 4p. We argue that unbalanced forms of t(4p;30) are more tolerated and result in viable congenital abnormalities, without causing embryonic death like all other known equine autosomal translocations. In Case 2, two stallions produced by somatic cell nuclear transfer from the same donor were karyotyped because of fertility issues. A balanced translocation t(12q;25) was found in one, but not in the other clone. The findings underscore the importance of routine cytogenetic screening of breeding animals and animals produced by assisted reproductive technologies. These cases will contribute to molecular studies of translocation breakpoints and their genetic consequences in the horse.

scholarly journals De Novo Assembly and Characterization of the Xenocatantops brachycerus Transcriptome

2018 ◽  
Vol 19 (2) ◽  
pp. 520 ◽  
Author(s):  
Le Zhao ◽  
Xinmei Zhang ◽  
Zhongying Qiu ◽  
Yuan Huang
Keyword(s):  
De Novo Assembly ◽  
De Novo

scholarly journals De novo assembly and characterization of the root transcriptome of Aegilops variabilis during an interaction with the cereal cyst nematode

BMC Genomics ◽  
2012 ◽  
Vol 13 (1) ◽  
pp. 133 ◽  
Author(s):  
De-Lin Xu ◽  
Hai Long ◽  
Jun-Jun Liang ◽  
Jie Zhang ◽  
Xin Chen ◽  
...  
Keyword(s):  
De Novo Assembly ◽  
De Novo ◽  
Cyst Nematode ◽  
Cereal Cyst Nematode ◽  
Root Transcriptome ◽  
Aegilops Variabilis

Characterization of a de novo balanced translocation t(9;18)(p23;q12.2) in a patient with oculoauriculovertebral spectrum

2010 ◽  
Vol 53 (2) ◽  
pp. 104-107 ◽  
Author(s):  
Caroline Rooryck ◽  
Yen VuPhi ◽  
Noui Souakri ◽  
Ingrid Burgelin ◽  
Robert Saura ◽  
...  
Keyword(s):  
De Novo ◽  
Balanced Translocation ◽  
Oculoauriculovertebral Spectrum

scholarly journals De novo assembly and characterization of skin transcriptome using RNAseq in sheep (Ovis aries)

2015 ◽  
Vol 14 (1) ◽  
pp. 1371-1384 ◽  
Author(s):  
Y.J. Yue ◽  
J.B. Liu ◽  
M. Yang ◽  
J.L. Han ◽  
T.T. Guo ◽  
...  
Keyword(s):  
De Novo Assembly ◽  
De Novo ◽  
Ovis Aries

scholarly journals De Novo Assembly and Characterization of Stress Transcriptome in a Salinity-Tolerant Variety CS52 of Brassica juncea

PLoS ONE ◽  
2015 ◽  
Vol 10 (5) ◽  
pp. e0126783 ◽  
Author(s):  
Rita Sharma ◽  
Manjari Mishra ◽  
Brijesh Gupta ◽  
Chirag Parsania ◽  
Sneh L. Singla-Pareek ◽  
...  
Keyword(s):  
Brassica Juncea ◽  
De Novo Assembly ◽  
De Novo ◽  
Tolerant Variety

scholarly journals A-58 Rare Case of Klinefelter Syndrome with 13/14 Balanced Translocation and Absence Epilepsy: Impact of Combined Genotypes on Cognitive Neuropsychological Phenotype

2019 ◽  
Vol 34 (6) ◽  
pp. 918-918
Author(s):  
S Shagalow ◽  
R Facchini ◽  
D Masur ◽  
E Weiss ◽  
S Schneider ◽  
...  
Keyword(s):  
Motor Coordination ◽  
Sex Chromosome ◽  
De Novo ◽  
Klinefelter Syndrome ◽  
Chromosome Rearrangement ◽  
Receptive Language ◽  
Absence Epilepsy ◽  
Language Therapy ◽  
Balanced Translocation ◽  
Increased Risk

Abstract Objective Klinefelter syndrome (KS) and Robertsonian translocation of 13/14 [rob t(13;14)] are the most common sex-chromosome disorder and chromosome rearrangement, respectively (Engels et al., 2008; Skakkebæk, Wallentin, & Gravholt, 2015). Both are associated with increased risk of cognitive/intellectual disability (ID). A case of KS and de novo (i.e., unbalanced) rob t(13;14) was previously reported (Gül & Şayli, 1994). A case of KS with balanced rob t(13;14) and well-controlled generalized absence epilepsy will be presented with consideration for pediatric neuropsychological practice. Method Neuropsychological evaluation of a 12-year-old, right-handed boy diagnosed with comorbid KS, rob t(13;14), and generalized absence epilepsy. Particular attention was given to language given his KS diagnosis. The patient is in a 12:1:1 self-contained classroom with speech-language therapy and social skills groups in place. The patient’s mother is confirmed to have rob t(13;14), whereas paternal contribution is unknown. Results Adolescent with a history of language difficulties, especially comprehension. Recent school-based WISC-V FSIQ was in the extremely low range (SS = 53), with weaker verbal comprehension and working memory. Academic achievement was globally very low. Expressive and receptive language, visual perception and motor coordination were extremely low to low average. Verbal list learning and visual attention were near average to average. Conclusions This case contributes to the very limited body of pediatric neuropsychological data on the combined genotype of KS with rob t(13;14) and absence epilepsy. Both the KS and rob t(13;14) cognitive phenotypes have been characterized as highly variable, with the comorbidity a likely increased risk for ID.

Cytogenetic and molecular characterization of a de-novo cryptic deletion of 7p21 associated with an apparently balanced translocation and complex craniosynostosis

2007 ◽  
Vol 16 (4) ◽  
pp. 253-256 ◽  
Author(s):  
Shashirekha Shetty ◽  
Kym M. Boycott ◽  
Tanya L. Gillan ◽  
Kathy Bowser ◽  
Jillian S. Parboosingh ◽  
...  
Keyword(s):  
Molecular Characterization ◽  
De Novo ◽  
Balanced Translocation
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