Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.

Phelan-McDermid syndrome (PMS) is a multi-system disorder characterized by significant variability in clinical presentation. The genetic etiology is also variable with differing sizes of deletions in the chromosome 22q13 region and types of genetic abnormalities (e.g., terminal or interstitial delet...

Descripción completa

Guardado en:

Detalles Bibliográficos
Autores principales:	Sujata Srikanth, Lavanya Jain, Cinthya Zepeda-Mendoza, Lauren Cascio, Kelly Jones, Rini Pauly, Barb DuPont, Curtis Rogers, Sara Sarasua, Katy Phelan, Cynthia Morton, Luigi Boccuto
Formato:	article
Lenguaje:	EN
Publicado:	Public Library of Science (PLoS) 2021
Materias:	Medicine R Science Q
Acceso en línea:	https://doaj.org/article/f1e267b546f04ca790d99f80fd77785b
Etiquetas:	Agregar Etiqueta Sin Etiquetas, Sea el primero en etiquetar este registro!

id	oai:doaj.org-article:f1e267b546f04ca790d99f80fd77785b
record_format	dspace
spelling	oai:doaj.org-article:f1e267b546f04ca790d99f80fd77785b2021-12-02T20:15:37ZPosition effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.1932-620310.1371/journal.pone.0253859https://doaj.org/article/f1e267b546f04ca790d99f80fd77785b2021-01-01T00:00:00Zhttps://doi.org/10.1371/journal.pone.0253859https://doaj.org/toc/1932-6203Phelan-McDermid syndrome (PMS) is a multi-system disorder characterized by significant variability in clinical presentation. The genetic etiology is also variable with differing sizes of deletions in the chromosome 22q13 region and types of genetic abnormalities (e.g., terminal or interstitial deletions, translocations, ring chromosomes, or SHANK3 variants). Position effects have been shown to affect gene expression and function and play a role in the clinical presentation of various genetic conditions. This study employed a topologically associating domain (TAD) analysis approach to investigate position effects of chromosomal rearrangements on selected candidate genes mapped to 22q13 in 81 individuals with PMS. Data collected were correlated with clinical information from these individuals and with expression and metabolic profiles of lymphoblastoid cells from selected cases. The data confirmed TAD predictions for genes encompassed in the deletions and the clinical and molecular data indicated clear differences among individuals with different 22q13 deletion sizes. The results of the study indicate a positive correlation between deletion size and phenotype severity in PMS and provide evidence of the contribution of other genes to the clinical variability in this developmental disorder by reduced gene expression and altered metabolomics.Sujata SrikanthLavanya JainCinthya Zepeda-MendozaLauren CascioKelly JonesRini PaulyBarb DuPontCurtis RogersSara SarasuaKaty PhelanCynthia MortonLuigi BoccutoPublic Library of Science (PLoS)articleMedicineRScienceQENPLoS ONE, Vol 16, Iss 7, p e0253859 (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	Medicine R Science Q
spellingShingle	Medicine R Science Q Sujata Srikanth Lavanya Jain Cinthya Zepeda-Mendoza Lauren Cascio Kelly Jones Rini Pauly Barb DuPont Curtis Rogers Sara Sarasua Katy Phelan Cynthia Morton Luigi Boccuto Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.
description	Phelan-McDermid syndrome (PMS) is a multi-system disorder characterized by significant variability in clinical presentation. The genetic etiology is also variable with differing sizes of deletions in the chromosome 22q13 region and types of genetic abnormalities (e.g., terminal or interstitial deletions, translocations, ring chromosomes, or SHANK3 variants). Position effects have been shown to affect gene expression and function and play a role in the clinical presentation of various genetic conditions. This study employed a topologically associating domain (TAD) analysis approach to investigate position effects of chromosomal rearrangements on selected candidate genes mapped to 22q13 in 81 individuals with PMS. Data collected were correlated with clinical information from these individuals and with expression and metabolic profiles of lymphoblastoid cells from selected cases. The data confirmed TAD predictions for genes encompassed in the deletions and the clinical and molecular data indicated clear differences among individuals with different 22q13 deletion sizes. The results of the study indicate a positive correlation between deletion size and phenotype severity in PMS and provide evidence of the contribution of other genes to the clinical variability in this developmental disorder by reduced gene expression and altered metabolomics.
format	article
author	Sujata Srikanth Lavanya Jain Cinthya Zepeda-Mendoza Lauren Cascio Kelly Jones Rini Pauly Barb DuPont Curtis Rogers Sara Sarasua Katy Phelan Cynthia Morton Luigi Boccuto
author_facet	Sujata Srikanth Lavanya Jain Cinthya Zepeda-Mendoza Lauren Cascio Kelly Jones Rini Pauly Barb DuPont Curtis Rogers Sara Sarasua Katy Phelan Cynthia Morton Luigi Boccuto
author_sort	Sujata Srikanth
title	Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.
title_short	Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.
title_full	Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.
title_fullStr	Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.
title_full_unstemmed	Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.
title_sort	position effects of 22q13 rearrangements on candidate genes in phelan-mcdermid syndrome.
publisher	Public Library of Science (PLoS)
publishDate	2021
url	https://doaj.org/article/f1e267b546f04ca790d99f80fd77785b
work_keys_str_mv	AT sujatasrikanth positioneffectsof22q13rearrangementsoncandidategenesinphelanmcdermidsyndrome AT lavanyajain positioneffectsof22q13rearrangementsoncandidategenesinphelanmcdermidsyndrome AT cinthyazepedamendoza positioneffectsof22q13rearrangementsoncandidategenesinphelanmcdermidsyndrome AT laurencascio positioneffectsof22q13rearrangementsoncandidategenesinphelanmcdermidsyndrome AT kellyjones positioneffectsof22q13rearrangementsoncandidategenesinphelanmcdermidsyndrome AT rinipauly positioneffectsof22q13rearrangementsoncandidategenesinphelanmcdermidsyndrome AT barbdupont positioneffectsof22q13rearrangementsoncandidategenesinphelanmcdermidsyndrome AT curtisrogers positioneffectsof22q13rearrangementsoncandidategenesinphelanmcdermidsyndrome AT sarasarasua positioneffectsof22q13rearrangementsoncandidategenesinphelanmcdermidsyndrome AT katyphelan positioneffectsof22q13rearrangementsoncandidategenesinphelanmcdermidsyndrome AT cynthiamorton positioneffectsof22q13rearrangementsoncandidategenesinphelanmcdermidsyndrome AT luigiboccuto positioneffectsof22q13rearrangementsoncandidategenesinphelanmcdermidsyndrome
_version_	1718374559503089664

Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.

Ejemplares similares