De novo intragenic deletion of theautism susceptibility candidate 2(AUTS2) gene in a patient with developmental delay: A case report and literature review

2013 ◽  
Vol 161 (6) ◽  
pp. 1508-1512 ◽  
Author(s):  
Alexandra Jolley ◽  
Mark Corbett ◽  
Lesley McGregor ◽  
Wendy Waters ◽  
Susan Brown ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Developmental Delay ◽  
De Novo ◽  
Intragenic Deletion

Intragenic Deletion of the ZMYND11 Gene in 10p15.3 is Associated with Developmental Delay Phenotype: A Case Report

2021 ◽  
pp. 1-4
Author(s):  
Minh-Tuan Huynh ◽  
Cong Toai Tran ◽  
Madeleine Joubert ◽  
Claire Bénéteau
Keyword(s):  
Case Report ◽  
Intellectual Disability ◽  
Developmental Delay ◽  
Clinical Features ◽  
Behavioral Problems ◽  
Gene Deletion ◽  
De Novo ◽  
Underlying Disease ◽  
Disease Mechanism ◽  
Intragenic Deletion

Submicroscopic 10p15.3 microdeletions were previously reported to be associated with developmental delay, and the smallest region of overlap of 10p15.3 deletion including <i>DIP2C</i> and <i>ZMYND11</i> was defined. Moreover, pathogenic <i>ZMYND11</i> truncating variants were subsequently identified in a cohort of patients with developmental delay. Of interest, patients harboring 10p15.3 microdeletions or pathogenic <i>ZMYND11</i> truncating variants share similar clinical features including hypotonia, intellectual disability, facial dysmorphisms, speech and motor delays, seizures, and significant behavioral problems. Only 1 patient with whole <i>ZMYND11</i> gene deletion was recorded, and no intragenic <i>ZMYND11</i> deletion was reported up to date. Here, we describe a 7-year-old boy with developmental delay, carrying the smallest de novo 10p15.3 microdeletion, harboring the 5′UTR and the first 2 exons of <i>ZMYND11.</i> Taken together, our report contributes to expand the clinical and mutational spectrum of <i>ZMYND11</i> and confirms haploinsufficiency as the underlying disease mechanism.

scholarly journals Cardiofaciocutaneus syndrome: literature review and case report

2019 ◽  
Vol 8 (4) ◽  
pp. 49-53
Author(s):  
V. V. Umnov ◽  
N. V. Nikitina ◽  
A. M. Khodorovskaya ◽  
O. V. Barlova
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Literature Review ◽  
Developmental Delay ◽  
Congenital Anomalies ◽  
Mapk Pathway ◽  
Heart Defects ◽  
Multiple Congenital Anomalies ◽  
Cardiofaciocutaneous Syndrome

The cardiofaciocutaneous syndrome is a condition of sporadic occurrence, with patients showing multiple congenital anomalies and mental retardation. The syndrome is caused by molecular disturbances in the RAS/MAPK pathway. We report on the girl, 9 year-old, with the cardiofaciocutaneous syndrome presenting with typical craniofacial appearance, heart defects, ectodermal abnormalities, neglected orthopedic pathology, developmental delay and spasticity, which rare in this syndrome.

De novo malignant craniopharyngioma: case report and literature review

2010 ◽  
Vol 103 (2) ◽  
pp. 381-386 ◽  
Author(s):  
Libero Lauriola ◽  
Francesco Doglietto ◽  
Mariangela Novello ◽  
Francesco Signorelli ◽  
Nicola Montano ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
De Novo

De novo brain arteriovenous malformation after tumor resection: case report and literature review

2018 ◽  
Vol 160 (11) ◽  
pp. 2191-2197 ◽  
Author(s):  
Anna Lo Presti ◽  
Jeffrey M. Rogers ◽  
Nazih N. A. Assaad ◽  
Michael L. Rodriguez ◽  
Marcus A. Stoodley ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Arteriovenous Malformation ◽  
De Novo ◽  
Tumor Resection ◽  
Brain Arteriovenous Malformation

scholarly journals Molecular-cytogenetic study of de novo mosaic karyotype 45,X/46,X,i(Yq)/46,X,idic(Yq) in an azoospermic male: Case report and literature review

2017 ◽  
Vol 16 (3) ◽  
pp. 3433-3438 ◽  
Author(s):  
Yuting Jiang ◽  
Ruixue Wang ◽  
Linlin Li ◽  
Lintao Xue ◽  
Shu Deng ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
De Novo ◽  
Cytogenetic Study ◽  
Molecular Cytogenetic ◽  
Mosaic Karyotype

An Interstitial 4q31.21q31.22 Microdeletion Associated with Developmental Delay: Case Report and Literature Review

2014 ◽  
Vol 142 (4) ◽  
pp. 227-238 ◽  
Author(s):  
Angeliki-Maria Vlaikou ◽  
Emmanouil Manolakos ◽  
Dimitrios Noutsopoulos ◽  
Georgios Markopoulos ◽  
Thomas Liehr ◽  
...  
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Developmental Delay
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