scholarly journals Sotos syndrome common deletion is mediated by directly oriented subunits within inverted Sos-REP low-copy repeats

2005 ◽  
Vol 14 (4) ◽  
pp. 535-542 ◽  
Author(s):  
Naohiro Kurotaki ◽  
Pawel Stankiewicz ◽  
Keiko Wakui ◽  
Norio Niikawa ◽  
James R. Lupski
Keyword(s):  
Sotos Syndrome ◽  
Low Copy Repeats ◽  
Common Deletion

Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion

2003 ◽  
Vol 22 (5) ◽  
pp. 378-387 ◽  
Author(s):  
Naohiro Kurotaki ◽  
Naoki Harada ◽  
Osamu Shimokawa ◽  
Noriko Miyake ◽  
Hiroshi Kawame ◽  
...  
Keyword(s):  
Sotos Syndrome ◽  
Low Copy Repeats ◽  
The Common ◽  
Common Deletion

scholarly journals Isolated Left Ventricular Noncompaction in a Case of Sotos Syndrome: A Casual or Causal Link?

2011 ◽  
Vol 2011 ◽  
pp. 1-3 ◽  
Author(s):  
Patrizia Saccucci ◽  
Federica Papetti ◽  
Roberta Martinoli ◽  
Alessandro Dofcaci ◽  
Ursula Tuderti ◽  
...  
Keyword(s):  
Physical Examination ◽  
Causal Link ◽  
Left Ventricular ◽  
Wall Thickening ◽  
Ventricular Wall ◽  
Sotos Syndrome ◽  
Left Ventricular Noncompaction ◽  
Ventricular Noncompaction ◽  
Cardiac Evaluation ◽  
Chromosome 5Q35

A 16-year-old boy affected by Sotos syndrome was referred to our clinic for cardiac evaluation in order to play noncompetitive sport. Physical examination was negative for major cardiac abnormalities and rest electrocardiogram detected only minor repolarization anomalies. Transthoracic echocardiography showed left ventricular wall thickening and apical trabeculations with deep intertrabecular recesses, fulfilling criteria for isolated left ventricular noncompaction (ILVNC). Some sporadic forms of ILVNC are reported to be caused by a mutation on CSX gene, mapping on chromosome 5q35. To our knowledge, this is the first report of a patient affected simultaneously by Sotos syndrome and ILVNC.

scholarly journals Activation of NF-κB signaling via cytosolic mitochondrial RNA sensing in kerotocytes with mitochondrial DNA common deletion

2021 ◽  
Vol 11 (1) ◽  
Author(s):  
Xin Zhou ◽  
Ludvig J. Backman ◽  
Patrik Danielson
Keyword(s):  
Wound Healing ◽  
Mitochondrial Dna ◽  
Scar Formation ◽  
Mitochondrial Rna ◽  
Peripheral Part ◽  
Double Stranded Rna ◽  
Corneal Wound ◽  
Biochemical Approach ◽  
Common Deletion ◽  
Underlying Mechanisms

AbstractScar formation as a result of corneal wound healing is a leading cause of blindness. It is a challenge to understand why scar formation is more likely to occur in the central part of the cornea as compared to the peripheral part. The purpose of this study was to unravel the underlying mechanisms. We applied RNA-seq to uncover the differences of expression profile in keratocytes in the central/peripheral part of the cornea. The relative quantity of mitochondrial RNA was measured by multiplex qPCR. The characterization of mitochondrial RNA in the cytoplasm was confirmed by immunofluoresence microscope and biochemical approach. Gene expression was analyzed by western blot and RT qPCR. We demonstrate that the occurrence of mitochondrial DNA common deletion is greater in keratocytes from the central cornea as compared to those of the peripheral part. The keratocytes with CD have elevated oxidative stress levels, which leads to the leakage of mitochondrial double-stranded RNA into the cytoplasm. The cytoplasmic mitochondrial double-stranded RNA is sensed by MDA5, which induces NF-κB activation. The NF-κB activation thereafter induces fibrosis-like extracellular matrix expressions and IL-8 mRNA transcription. These results provide a novel explanation of the different clinical outcome in different regions of the cornea during wound healing.

The otolaryngologic manifestations of sotos syndrome 1: A systematic review

2021 ◽  
Vol 143 ◽  
pp. 110649
Author(s):  
David O'Neil Danis ◽  
Olaf Bodamer ◽  
Jessica R. Levi
Keyword(s):  
Systematic Review ◽  
Sotos Syndrome

scholarly journals Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome

2021 ◽  
Author(s):  
Matheus Augusto Araújo Castro ◽  
Juliana Heather Vedovato Santos ◽  
Rachel Sayuri Honjo ◽  
Guilherme Lopes Yamamoto ◽  
Débora Romeo Bertola ◽  
...  
Keyword(s):  
Sotos Syndrome ◽  
Facial Phenotype

scholarly journals Sotos syndrome and the added value of genetic workup in epilepsy surgery

2021 ◽  
Author(s):  
Linda Bättig ◽  
Richard Ewald Rosch ◽  
Katharina Steindl ◽  
Sarah Elisabeth Bürki ◽  
Georgia Ramantani
Keyword(s):  
Epilepsy Surgery ◽  
Added Value ◽  
Sotos Syndrome

Drosophila NSD deletion induces developmental anomalies similar to those seen in Sotos syndrome 1 patients

2021 ◽  
Author(s):  
Saeyan Choi ◽  
Bokyeong Song ◽  
Hyewon Shin ◽  
Chihyun Won ◽  
Taejoon Kim ◽  
...  
Keyword(s):  
Sotos Syndrome ◽  
Developmental Anomalies

scholarly journals Rearrangements of the Williams–Beuren syndrome locus: molecular basis and implications for speech and language development

2007 ◽  
Vol 9 (15) ◽  
pp. 1-16 ◽  
Author(s):  
Lucy R. Osborne ◽  
Carolyn B. Mervis
Keyword(s):  
Language Development ◽  
Language Impairment ◽  
Short Term Memory ◽  
Relative Strength ◽  
Genomic Rearrangements ◽  
Speech And Language ◽  
Human Speech ◽  
Hyperactivity Disorder ◽  
Low Copy Repeats ◽  
Speech And Language Development

AbstractThe Williams–Beuren syndrome (WBS) locus on human chromosome 7q11.23 is flanked by complex chromosome-specific low-copy repeats that mediate recurrent genomic rearrangements of the region. Common genomic rearrangements arise through unequal meiotic recombination and result in complex but distinct behavioural and cognitive phenotypes. Deletion of 7q11.23 results in WBS, which is characterised by mild to moderate intellectual disability or learning difficulties, with relative cognitive strengths in verbal short-term memory and in language and extreme weakness in visuospatial construction, as well as anxiety, attention-deficit hyperactivity disorder and overfriendliness. By contrast, duplication results in severely delayed speech and expressive language, with relative strength in visuospatial construction. Although deletion and duplication of the WBS region have very different effects, both cause forms of language impairment and suggest that dosage-sensitive genes within the region are important for the proper development of human speech and language. The spectrum and frequency of genomic rearrangements at 7q11.23 presents an exceptional opportunity to identify gene(s) directly involved in human speech and language development.

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