Literature DB >> 35186394

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

Mario Mastrangelo1, Barbara Torres2, Gloria De Vita1, Marina Goldoni2, Agnese De Giorgi1, Laura Bernardini2, Vincenzo Leuzzi1.   

Abstract

Reported 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 . Thieme. All rights reserved.

Entities:  

Keywords:  10q duplication syndrome; autism spectrum disorder; epilepsy; intellectual disability

Year:  2020        PMID： 35186394      PMCID： PMC8847059          DOI： 10.1055/s-0040-1715479

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN： 2146-460X


  29 in total

1.  Identification of critical regions for clinical features of distal 10q deletion syndrome.

Authors:  S A Yatsenko; M C Kruer; P I Bader; D Corzo; J Schuette; C E Keegan; B Nowakowska; S Peacock; W W Cai; D A Peiffer; K L Gunderson; Z Ou; A C Chinault; S W Cheung
Journal:  Clin Genet       Date:  2009-06-22       Impact factor: 4.438

2.  Relatives with opposite chromosome constitutions, rec(10)dup(10p)inv(10)(p15.1q26.12) and rec(10)dup(10q)inv(10)(p15.1q26.12), due to a familial pericentric inversion.

Authors:  Zivile Ciuladaite; Egle Preiksaitiene; Algirdas Utkus; Vaidutis Kučinskas
Journal:  Cytogenet Genome Res       Date:  2014-11-15       Impact factor: 1.636

3.  Small 7p22.3 microdeletion: Case report of Snx8 haploinsufficiency and neurological findings.

Authors:  Gioia Mastromoro; Anna Capalbo; Cristiana Alessia Guido; Barbara Torres; Maria Fabbretti; Alice Traversa; Antonella Giancotti; Flavia Ventriglia; Laura Bernardini; Alberto Spalice; Antonio Pizzuti
Journal:  Eur J Med Genet       Date:  2019-09-27       Impact factor: 2.708

4.  Partial distal 10q trisomy due to de novo amplification: A new case without furrows or ridges in fingers and palms.

Authors:  Aliakbar Rahbarimanesh; Pupak Derakhshandeh-Peykar; Amirhassan Barkhordari; Reza Ebrahimzadeh-Vesal; Soja Shamizadeh Kalkhoran
Journal:  Rep Biochem Mol Biol       Date:  2013-04

5.  PRKAR1B mutation associated with a new neurodegenerative disorder with unique pathology.

Authors:  Tsz Hang Wong; Wang Zheng Chiu; Guido J Breedveld; Ka Wan Li; Annemieke J M H Verkerk; David Hondius; Renate K Hukema; Harro Seelaar; Petra Frick; Lies-Anne Severijnen; Gert-Jan Lammers; Joyce H G Lebbink; Sjoerd G van Duinen; Wouter Kamphorst; Annemieke J Rozemuller; E Bert Bakker; Manuela Neumann; Rob Willemsen; Vincenzo Bonifati; August B Smit; John van Swieten
Journal:  Brain       Date:  2014-04-09       Impact factor: 13.501

6.  The neuronal Arf GAP centaurin alpha1 modulates dendritic differentiation.

Authors:  Carlene D Moore; Erin E Thacker; Jennifer Larimore; David Gaston; Alison Underwood; Brian Kearns; Sean I Patterson; Trevor Jackson; Chris Chapleau; Lucas Pozzo-Miller; Anne Theibert
Journal:  J Cell Sci       Date:  2007-07-17       Impact factor: 5.285

7.  Blepharophimosis and mental retardation (BMR) phenotypes caused by chromosomal rearrangements: description in a boy with partial trisomy 10q and monosomy 4q and review of the literature.

Authors:  Deborah Bartholdi; Sandra P Toelle; Bernhard Steiner; Eugen Boltshauser; Albert Schinzel; Mariluce Riegel
Journal:  Eur J Med Genet       Date:  2008-01-04       Impact factor: 2.708

8.  Distal trisomy 10q syndrome, report of a patient with duplicated q24.31 - qter, autism spectrum disorder and unusual features.

Authors:  Yasser Al-Sarraj; Hakam Abu Al-Khair; Rowaida Ziad Taha; Namat Khattab; Zakaria H El Sayed; Bushra Elhusein; Hatem El-Shanti
Journal:  Clin Case Rep       Date:  2014-07-25

9.  Cadherin-13, a risk gene for ADHD and comorbid disorders, impacts GABAergic function in hippocampus and cognition.

Authors:  O Rivero; M M Selten; S Sich; S Popp; L Bacmeister; E Amendola; M Negwer; D Schubert; F Proft; D Kiser; A G Schmitt; C Gross; S M Kolk; T Strekalova; D van den Hove; T J Resink; N Nadif Kasri; K P Lesch
Journal:  Transl Psychiatry       Date:  2015-10-13       Impact factor: 6.222

10.  Analysis of Copy Number Variations in Patients with Autism Using Cytogenetic and MLPA Techniques: Report of 16p13.1p13.3 and 10q26.3 Duplications.

Authors:  Saghar Ghasemi Firouzabadi; Roshanak Vameghi; Roxana Kariminejad; Hossein Darvish; Susan Banihashemi; Mahboubeh Firouzkouhi Moghaddam; Peyman Jamali; Hassan Farbod Mofidi Tehrani; Hossein Dehghani; Mohammad Reza Raeisoon; Mehrnaz Narooie-Nejad; Javad Jamshidi; Abbas Tafakhori; Saeid Sadabadi; Farkhondeh Behjati
Journal:  Int J Mol Cell Med       Date:  2016-12-05
View more

北京卡尤迪生物科技股份有限公司 © 2022-2023.