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

Developmental Anomalies of the WAIS-IV Digit Span Subtest

2013 ◽  
Author(s):  
Helen H. Hansen ◽  
Joel Simons ◽  
Wayne V. Adams ◽  
Jeffrey Schloemer ◽  
Jenae Ulrich
Keyword(s):  
Digit Span ◽  
Developmental Anomalies

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.

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

Developmental Anomalies of Permanent Lateral Incisors in Young Patients

2009 ◽  
Vol 33 (3) ◽  
pp. 211-216 ◽  
Author(s):  
Yuko Fujita ◽  
Akiko Hidaka ◽  
Ikuko Nishida ◽  
Kazumasa Morikawa ◽  
Daisuke Hashiguchi ◽  
...  
Keyword(s):  
Young Patients ◽  
Pediatric Dentistry ◽  
Optimal Time ◽  
Prevalence Rates ◽  
Supernumerary Tooth ◽  
Japanese Children ◽  
College Hospital ◽  
Developmental Anomalies ◽  
Dental Clinics ◽  
Appropriate Treatment

Objective: To elucidate the prevalence of developmental anomalies of permanent lateral incisors among young patients in Japan. Study deign: A total of 1375 patients were observed between 1990 and 2008 at the Department of Pediatric Dentistry in the Kyushu Dental College Hospital and four private pediatric dental clinics in Kitakyushu City. Panoramic and periapical radiographs were examined for all those patients aged 5 to 19 years. Results: The prevalence of agenesis of the lateral incisors was 7.3% (100 patients), with more girls than boys being affected. The prevalence rates of absent upper and lower lateral incisors were 2.7 and 4.8 % (34 and 63 patients), respectively. Nine (0.7 %) of the total patients had microdontia. Eruption disturbance was present in five patients (0.4 %). Two of five patients presented with a disturbed eruption owing to an odontoma or a supernumerary tooth. Conclusion: In our study, the prevalence of agenesis of the lateral incisors was higher in Japanese children than in other populations, and eruption disturbance occurred less frequently than agenesis and microdontia. Nevertheless, the early differential diagnosis of an eruption disturbance is important in order to begin appropriate treatment at the optimal time.

Lethal Hypoplasia and Developmental Anomalies of the Lungs in a Newborn with Intrauterine Adrenal Hemorrhage and Cerebral Infarcts: A Proposed Pulmonary Disruption Sequence

2014 ◽  
Vol 17 (5) ◽  
pp. 374-381 ◽  
Author(s):  
Terakeith Lertsburapa ◽  
Diana Vargas ◽  
Geralyn Lambert-Messerlian ◽  
Umadevi Tantravahi ◽  
Füsun Gündoğan ◽  
...  
Keyword(s):  
Adrenal Hemorrhage ◽  
Cerebral Infarcts ◽  
Developmental Anomalies

scholarly journals Nizp1, a Novel Multitype Zinc Finger Protein That Interacts with the NSD1 Histone Lysine Methyltransferase through a Unique C2HR Motif

2004 ◽  
Vol 24 (12) ◽  
pp. 5184-5196 ◽  
Author(s):  
Anders Lade Nielsen ◽  
Poul Jørgensen ◽  
Thierry Lerouge ◽  
Margarita Cerviño ◽  
Pierre Chambon ◽  
...  
Keyword(s):  
Rna Polymerase Ii ◽  
Zinc Finger ◽  
Zinc Finger Protein ◽  
Sotos Syndrome ◽  
Dependent Manner ◽  
Interacting Protein ◽  
Protein Protein Interaction ◽  
Histone Lysine ◽  
Histone Lysine Methyltransferase ◽  
Lysine Methyltransferase

ABSTRACT Haploinsufficiency of the NSD1 gene is a hallmark of Sotos syndrome, and rearrangements of this gene by translocation can cause acute myeloid leukemia. The NSD1 gene product is a SET-domain histone lysine methyltransferase that has previously been shown to interact with nuclear receptors. We describe here a novel NSD1-interacting protein, Nizp1, that contains a SCAN box, a KRAB-A domain, and four consensus C2H2-type zinc fingers preceded by a unique finger derivative, referred to herein as the C2HR motif. The C2HR motif functions to mediate protein-protein interaction with the cysteine-rich (C5HCH) domain of NSD1 in a Zn(II)-dependent fashion, and when tethered to RNA polymerase II promoters, represses transcription in an NSD1-dependent manner. Mutations of the cysteine or histidine residues in the C2HR motif abolish the interaction of Nizp1 with NSD1 and compromise the ability of Nizp1 to repress transcription. Interestingly, converting the C2HR motif into a canonical C2H2 zinc finger has a similar effect. Thus, Nizp1 contains a novel type of zinc finger motif that functions as a docking site for NSD1 and is more than just a degenerate evolutionary remnant of a C2H2 motif.

scholarly journals Loss-of-Function Mutation in APC2 Causes Sotos Syndrome Features

Cell Reports ◽  
2015 ◽  
Vol 10 (9) ◽  
pp. 1585-1598 ◽  
Author(s):  
Mariam Almuriekhi ◽  
Takafumi Shintani ◽  
Somayyeh Fahiminiya ◽  
Akihiro Fujikawa ◽  
Kazuya Kuboyama ◽  
...  
Keyword(s):  
Sotos Syndrome ◽  
Loss Of Function
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