Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11)-Reference-Cited by-同舟云学术

Neurodevelopmental Impairment As the Main Phenotypic Hallmark Associated with the Translocation t(7;10)(7p22.3;q26.11)

Published:2020-08-20 Issue: Volume: Page:
ISSN:2146-4596
Container-title:Journal of Pediatric Genetics
language:en
Short-container-title:J Pediatr Genet

Author:

Mastrangelo Mario¹,Torres Barbara²,De Vita Gloria¹,Goldoni Marina²,De Giorgi Agnese¹,Bernardini Laura²,Leuzzi Vincenzo¹

Affiliation:

1. Department of Human Neurosciences, Division of Child Neurology and Infantile Psychiatry, Sapienza University of Rome, Rome, Italy

2. Medical Genetics Division, IRCCS Casa Sollievo della Sofferenza Foundation, San Giovanni Rotondo (FG), Italy

Abstract

AbstractReported here is a novel patient carrying an unbalanced t (10q26.11-q26.3; 7p22.3) and presenting with a severe intellectual disability with autistic features, abnormalities of muscle tone, and a drug-responsive epilepsy. The prominence of neurological and neurodevelopmental abnormalities in the clinical phenotype highlights a possible pathogenic role for different genes in the involved regions. Hypothetical mechanisms may include a possible gene dosage effect for DOCK1 and/or haploinsufficiency of PRKAR1B SUN1, ADAP1, and GPER1.

Publisher

Georg Thieme Verlag KG

Subject

Genetics (clinical),Pediatrics, Perinatology and Child Health

Link

http://www.thieme-connect.de/products/ejournals/pdf/10.1055/s-0040-1715479.pdf

Reference29 articles.

1. Distal trisomy 10q syndrome: phenotypic features in a child with inverted duplicated 10q25.1-q26.3;M T Carter;Clin Dysmorphol,2010

2. Small 7p22.3 microdeletion: case report of Snx8 haploinsufficiency and neurological findings;G Mastromoro;Eur J Med Genet,2020

3. Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 - qter, autism spectrum disorder and unusual features;Y Al-Sarraj;Clin Case Rep,2014

4. Analysis of copy number variations in patients with autism using cytogenetic and MLPA techniques: report of 16p13.1p13.3 and 10q26.3 duplications;S Ghasemi Firouzabadi;Int J Mol Cell Med,2016

5. Variable developmental delays and characteristic facial features-A novel 7p22.3p22.2 microdeletion syndrome?;A C Yu;Am J Med Genet A,2017