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 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

Complete physical map of the common deletion region in Williams syndrome and identification and characterization of three novel genes

1998 ◽  
Vol 103 (5) ◽  
pp. 590-599 ◽  
Author(s):  
X. Meng ◽  
Xiaojun Lu ◽  
Zhizhong Li ◽  
Eric D. Green ◽  
Hillary Massa ◽  
...  
Keyword(s):  
Williams Syndrome ◽  
Physical Map ◽  
Novel Genes ◽  
Deletion Region ◽  
The Common ◽  
Common Deletion ◽  
Identification And Characterization

Characterization of the D8 gene which locates to 3p21, the common deletion region in lung cancer

1992 ◽  
Vol 63 (2) ◽  
pp. 180
Author(s):  
Klaas Kok ◽  
Peter Terpstra ◽  
Anke van den Berg ◽  
Dorothy L. Buchhagen ◽  
Robert Hofstra ◽  
...  
Keyword(s):  
Lung Cancer ◽  
Deletion Region ◽  
The Common ◽  
Common Deletion

scholarly journals Common Deletion (CD) in mitochondrial DNA of irradiated rat heart

2014 ◽  
Vol 86 (2) ◽  
pp. 685-694 ◽  
Author(s):  
RAQUEL G. SIQUEIRA ◽  
DAYSE A. DA SILVA ◽  
LUIZ D.B. DE MELO ◽  
ELIZEU F. DE CARVALHO ◽  
SAMARA C. FERREIRA-MACHADO ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Ionizing Radiation ◽  
Real Time ◽  
Real Time Pcr ◽  
Rat Heart ◽  
Wistar Rats ◽  
Post Irradiation ◽  
Male Wistar Rats ◽  
The Common ◽  
Common Deletion

The purpose of this study was to map the common deletion (CD) area in mtDNA and investigate the levels of this deletion in irradiated heart. The assays were developed in male Wistar rats that were irradiated with three different single doses (5, 10 or 15 Gy) delivered directly to the heart and the analyses were performed at various times post-irradiation (3, 15 or 120 days). The CDs area were sequenced and the CD quantified by real-time PCR. Our study demonstrated that the CD levels progressively decreased from the 3rduntil the 15th day after irradiation, and then increased thereafter. Additionally, it was observed that the levels of CD are modulated differently according to the different categories of doses (moderate and high). This study demonstrated an immediate response to ionizing radiation, measured by the presence of mutations in the CD area and a decrease in the CD levels.

Cerebral gigantism (Sotos' syndrome). A rare cause of delayed walking and awkward gait

1995 ◽  
Vol 85 (9) ◽  
pp. 497-499 ◽  
Author(s):  
E Sobel
Keyword(s):  
Speech Development ◽  
Sotos Syndrome ◽  
Early Language ◽  
Cerebral Gigantism ◽  
Early Language Development ◽  
Large Size ◽  
History Of ◽  
The Common ◽  
Craniofacial Features ◽  
Size At Birth

A case history of an 8-year-old girl with cerebral gigantism (Sotos' syndrome) has been presented. Throughout her life, this child has demonstrated all of the common features of Sotos' syndrome including large size at birth, excessive growth during childhood, dysmorphic craniofacial features, delay in motor and speech development, generalized clumsiness, and awkward gait. Family history was contributory with delays in early language development and the possibility that the child's father had Sotos' syndrome. When evaluating a pediatric patient for pes planus, delayed walking, and gait problems, the practitioner should consider the entire clinical profile and unusual etiologies.

Differentiated psychopharmacological treatment in three genetic subtypes of 22q11.2 deletion syndrome

2017 ◽  
Vol 41 (S1) ◽  
pp. S388-S389
Author(s):  
W.M.A. Verhoeven ◽  
J.I.M. Egger ◽  
N. de Leeuw
Keyword(s):  
Heart Defects ◽  
22Q11.2 Deletion Syndrome ◽  
Autism Spectrum ◽  
Pharmacological Intervention ◽  
Deletion Syndrome ◽  
22Q11.2 Deletion ◽  
Conventional Antipsychotics ◽  
Genetic Subtypes ◽  
The Common ◽  
Common Deletion

IntroductionThe 22q11.2 deletion syndrome (22q11DS), mostly caused by the common deletion including the TBX- and COMT-genes (LCR22A-D), is highly associated with somatic anomalies. The distal deletion (distal of LCR22D) comprises the MAPK1-gene and is associated with specific heart defects. The rare central deletion (LCR22B-D) encompasses the CRKL-gene and shows predominantly urogenital anomalies. 22q11DS also differs in its neuropsychiatric profile: common deletion accompanied by schizophrenia-like psychoses and autism spectrum disorders, distal deletion by anxiety disorders, and central deletion by autistic-like behaviours.ObjectivesInvestigating genetic subtypes of 22q11DS.AimsAchieving a targeted pharmacological treatment based on genetic sub-typing.MethodsThirty-two patients with genetically proven 22q11DS, referred for detailed neuropsychiatric analysis.ResultsApart from two patients with distal deletion and one with central deletion, common 22q11.2 deletion was detected in 29 patients. Those with the common deletion were typified by a history of relapsing schizophrenia-like psychoses and partial non-response to conventional antipsychotics. In most patients, anxieties and mood instability were also manifest. The two patients with a distal deletion predominantly showed anxiety symptoms, while the behaviour of the patient with a central deletion was characterized by symptoms from the autism spectrum. Most patients with a common deletion could successfully be treated with clozapine or quetiapine, often combined with valproic acid. One patient with a distal deletion showed full remission upon treatment with citalopram (the second refused such a pharmacological intervention). The behaviour of the patient with central deletion improved upon contextual measures only.ConclusionsThe genetic subtype of 22q11DS enables targeting of treatment strategy.Disclosure of interestThe authors have not supplied their declaration of competing interest.

Quantification of the common deletion in mitochondrial DNA of ICSI-Amniocytes and Non-ICSI-Amniocytes by competitive PCR

2003 ◽  
Vol 80 ◽  
pp. 39-40
Author(s):  
Sook H. Lee ◽  
Sung W. Cho ◽  
Hyun A. Kim ◽  
In P. Kwak ◽  
Jee E. Han ◽  
...  
Keyword(s):  
Mitochondrial Dna ◽  
Competitive Pcr ◽  
The Common ◽  
Common Deletion

scholarly journals A syndrome of short stature, microcephaly and speech delay is associated with duplications reciprocal to the common Sotos syndrome deletion

2009 ◽  
Vol 18 (2) ◽  
pp. 258-261 ◽  
Author(s):  
Luis M Franco ◽  
Thomy de Ravel ◽  
Brett H Graham ◽  
Stephanie M Frenkel ◽  
Jozef Van Driessche ◽  
...  
Keyword(s):  
Short Stature ◽  
Sotos Syndrome ◽  
Speech Delay ◽  
The Common
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