scholarly journals Disruption of the ProSAP2 Gene in a t(12;22)(q24.1;q13.3) Is Associated with the 22q13.3 Deletion Syndrome

2001 ◽  
Vol 69 (2) ◽  
pp. 261-268 ◽  
Author(s):  
Maria Clara Bonaglia ◽  
Roberto Giorda ◽  
Renato Borgatti ◽  
Giorgio Felisari ◽  
Chiara Gagliardi ◽  
...  
Keyword(s):  
Deletion Syndrome ◽  
22Q13.3 Deletion Syndrome

scholarly journals DNA methylation epi-signature is associated with two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome

2021 ◽  
Vol 13 (1) ◽  
Author(s):  
L. C. Schenkel ◽  
E. Aref-Eshghi ◽  
K. Rooney ◽  
J. Kerkhof ◽  
M. A. Levy ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Critical Region ◽  
Deletion Syndrome ◽  
Genetic Defects ◽  
Chromosome 22 ◽  
Incomplete Penetrance ◽  
Variable Size ◽  
Variable Expressivity ◽  
Genome Wide ◽  
22Q13.3 Deletion Syndrome

Abstract Background Phelan-McDermid syndrome is characterized by a range of neurodevelopmental phenotypes with incomplete penetrance and variable expressivity. It is caused by a variable size and breakpoint microdeletions in the distal long arm of chromosome 22, referred to as 22q13.3 deletion syndrome, including the SHANK3 gene. Genetic defects in a growing number of neurodevelopmental genes have been shown to cause genome-wide disruptions in epigenomic profiles referred to as epi-signatures in affected individuals. Results In this study we assessed genome-wide DNA methylation profiles in a cohort of 22 individuals with Phelan-McDermid syndrome, including 11 individuals with large (2 to 5.8 Mb) 22q13.3 deletions, 10 with small deletions (< 1 Mb) or intragenic variants in SHANK3 and one mosaic case. We describe a novel genome-wide DNA methylation epi-signature in a subset of individuals with Phelan-McDermid syndrome. Conclusion We identified the critical region including the BRD1 gene as responsible for the Phelan-McDermid syndrome epi-signature. Metabolomic profiles of individuals with the DNA methylation epi-signature showed significantly different metabolomic profiles indicating evidence of two molecularly and phenotypically distinct clinical subtypes of Phelan-McDermid syndrome.

Neurobehavioral Profile and Brain Imaging Study of the 22q13.3 Deletion Syndrome in Childhood

PEDIATRICS ◽  
2008 ◽  
Vol 122 (2) ◽  
pp. e376-e382 ◽  
Author(s):  
A. Philippe ◽  
N. Boddaert ◽  
L. Vaivre-Douret ◽  
L. Robel ◽  
L. Danon-Boileau ◽  
...  
Keyword(s):  
Brain Imaging ◽  
Imaging Study ◽  
Deletion Syndrome ◽  
Brain Imaging Study ◽  
Neurobehavioral Profile ◽  
22Q13.3 Deletion Syndrome

scholarly journals Increased Recurrence Risk in Phelan-McDermid (22q13.3 Deletion) Syndrome: the Importance of FISH Demonstrated by a Case Series of Five Families

OBM Genetics ◽  
2018 ◽  
Vol 2 (4) ◽  
pp. 1-1
Author(s):  
Renée J. Zwanenburg ◽  
◽  
Trijnie Dijkhuizen ◽  
Martijn J. de Groot ◽  
Sheela Nampoothiri ◽  
...  
Keyword(s):  
Case Series ◽  
Recurrence Risk ◽  
Deletion Syndrome ◽  
22Q13.3 Deletion Syndrome

Late-onset epileptic spasms in a patient with 22q13.3 deletion syndrome

2016 ◽  
Vol 38 (1) ◽  
pp. 109-112 ◽  
Author(s):  
Nobutsune Ishikawa ◽  
Yoshiyuki Kobayashi ◽  
Yuji Fujii ◽  
Toshiyuki Yamamoto ◽  
Masao Kobayashi
Keyword(s):  
Late Onset ◽  
Deletion Syndrome ◽  
Epileptic Spasms ◽  
22Q13.3 Deletion Syndrome

scholarly journals 22q13.32 Deletion and Duplication and Inversion in the Same Family: A Rare Occurrence

2011 ◽  
Vol 2011 ◽  
pp. 1-4 ◽  
Author(s):  
Farooqua Jafri ◽  
James Fink ◽  
Rodney R. Higgins ◽  
Raymond Tervo
Keyword(s):  
Genetic Testing ◽  
Developmental Delay ◽  
Early Infancy ◽  
Deletion Syndrome ◽  
Global Developmental Delay ◽  
Rare Occurrence ◽  
Dysmorphic Features ◽  
Chromosome Imbalance ◽  
And Inversion ◽  
22Q13.3 Deletion Syndrome

Chromosome 22q13.3 deletion syndrome is a well-recognized cause of global developmental delay, while duplication of the same chromosome is a rare occurrence. The presence of both abnormalities in the same family has never been reported, to our knowledge. We report a rare occurrence of 22q13.3 duplication and 22q13.3 deletion in siblings, as a consequence of a mother's inversion on her 22nd chromosome (p13;q13.32). A 6 year old male was noted in infancy to have mild global developmental delay without dysmorphic features. His genetic testing revealed he had 22q13.3 duplication to the terminus. His 4 year old brother was noted in early infancy to have severe global developmental delay and dysmorphic features related to 22q13.3 deletion to the terminus. Their mother had a long inversion on her 22nd chromosome. Genetic tests for their father and eldest brother were unremarkable. The mother's inversion may rearrange to form 22q duplication or deletion when passed on to children. The chance of a child born with a chromosome imbalance is as high as 50%.

scholarly journals Identification of a recurrent breakpoint within the SHANK3 gene in the 22q13.3 deletion syndrome

2006 ◽  
Vol 43 (10) ◽  
pp. 822-828 ◽  
Author(s):  
M C Bonaglia ◽  
R Giorda ◽  
E Mani ◽  
G Aceti ◽  
B-M Anderlid ◽  
...  
Keyword(s):  
Deletion Syndrome ◽  
22Q13.3 Deletion Syndrome

Fulminant hepatic failure requiring liver transplantation in 22q13.3 deletion syndrome

2010 ◽  
Vol 152A (8) ◽  
pp. 2099-2102 ◽  
Author(s):  
Oliver Bartsch ◽  
Eberhard Schneider ◽  
Natalja Damatova ◽  
Roger Weis ◽  
Maria Tufano ◽  
...  
Keyword(s):  
Liver Transplantation ◽  
Fulminant Hepatic Failure ◽  
Hepatic Failure ◽  
Deletion Syndrome ◽  
22Q13.3 Deletion Syndrome

scholarly journals A Case Report of Phelan-McDermid Syndrome: Successful Treatment with Growth Hormone Therapy

2020 ◽  
Author(s):  
RuiJin Xie ◽  
TianXiao Li ◽  
CHENYU SUN ◽  
CHENG CE ◽  
Xu Hua ◽  
...  
Keyword(s):  
Growth Hormone ◽  
Recombinant Human Growth Hormone ◽  
Human Growth ◽  
Deletion Syndrome ◽  
Global Developmental Delay ◽  
Chinese Girl ◽  
Number Variation ◽  
Second Generation Sequencing ◽  
Alternative Choice ◽  
22Q13.3 Deletion Syndrome

Abstract Background: Phelan-McDermid syndrome (PMS), also known as 22q13.3 deletion syndrome, is a rare neurodevelopmental syndrome resulting from a deletion of the distal long arm of chromosome 22. Case presentation: We report a case of a 21 months old Chinese girl presenting with global developmental delay, absence of speech, unable to understand a few words or walk independently, insomnia, and autism-like behaviors. Second-generation sequencing and copy number variation analysis showed a heterozygous loss of SHANK3 gene in the 22q13 region, consistent with a diagnosis of PMS. After treatment with recombinant human growth hormone (rhGH), this patient had an improvement in motor skills and social behaviors. No side effects from rhGH therapy were reported. Conclusions: This is the first report of using rhGH to treat a Chinese girl diagnosed with PMS. We speculate rhGH could be a reasonable alternative choice for PMS treatment with similar clinical outcomes in comparison to insulin-like growth factor-1(IGF-1). However, further clinical trials are needed to confirm this hypothesis.

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