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Position effects of 22q13 rearrangements on candidate genes in Phelan-McDermid syndrome.
Srikanth, Sujata; Jain, Lavanya; Zepeda-Mendoza, Cinthya; Cascio, Lauren; Jones, Kelly; Pauly, Rini; DuPont, Barb; Rogers, Curtis; Sarasua, Sara; Phelan, Katy; Morton, Cynthia; Boccuto, Luigi.
Afiliação
  • Srikanth S; Greenwood Genetic Center, Greenwood, SC, United States of America.
  • Jain L; School of Nursing, Healthcare Genetics Program, Clemson University, Clemson, SC, United States of America.
  • Zepeda-Mendoza C; Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital, Boston, MA, United States of America.
  • Cascio L; Harvard Medical School, Boston, MA, United States of America.
  • Jones K; Greenwood Genetic Center, Greenwood, SC, United States of America.
  • Pauly R; Greenwood Genetic Center, Greenwood, SC, United States of America.
  • DuPont B; Greenwood Genetic Center, Greenwood, SC, United States of America.
  • Rogers C; Greenwood Genetic Center, Greenwood, SC, United States of America.
  • Sarasua S; Greenwood Genetic Center, Greenwood, SC, United States of America.
  • Phelan K; School of Nursing, Healthcare Genetics Program, Clemson University, Clemson, SC, United States of America.
  • Morton C; Genetics Laboratory, Florida Cancer Specialists and Research Institute, Fort Myers, FL, United States of America.
  • Boccuto L; Department of Obstetrics, Gynecology, and Reproductive Biology, Brigham and Women's Hospital, Boston, MA, United States of America.
PLoS One ; 16(7): e0253859, 2021.
Article em En | MEDLINE | ID: mdl-34228749
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.
Assuntos

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Rearranjo Gênico / Transtornos Cromossômicos Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: PLoS One Ano de publicação: 2021 Tipo de documento: Article

Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Rearranjo Gênico / Transtornos Cromossômicos Tipo de estudo: Etiology_studies / Incidence_studies / Observational_studies / Prognostic_studies / Risk_factors_studies Limite: Adolescent / Child / Child, preschool / Female / Humans / Male Idioma: En Revista: PLoS One Ano de publicação: 2021 Tipo de documento: Article