Author | Hijazi, Hadia | |
Author | Coelho, Fernanda Sales | |
Author | Gonzaga Jauregui, Claudia | |
Author | Bernardini, Laura | |
Author | Mar, Soe S. | |
Author | Manning, Melanie A. | |
Author | Hanson-Kahn, Andrea | |
Author | Naidu, SakkuBai | |
Author | Srivastava, Siddharth | |
Author | Lee, Jennifer A. | |
Author | Jones, Julie R. | |
Author | Friez, Michael J. | |
Author | Alberico, Thomas | |
Author | Torres, Barbara | |
Author | Fang, Ping | |
Author | Cheung, Sau Wai | |
Author | Song, Xiaofei | |
Author | Davis-Williams, Angelique | |
Author | Jornlin, Carly | |
Author | Wight, Patricia A. | |
Author | Patyal, Pankaj | |
Author | Taube, Jennifer | |
Author | Poretti, Andrea | |
Author | Inoue, Ken | |
Author | Zhang, Feng | |
Author | Pehlivan, Davut | |
Author | Carvalho, Claudia M. B. | |
Author | Hobson, Grace M. | |
Author | Lupski, James R. | |
Access date | 2020-03-31T17:36:50Z | |
Available date | 2020-03-31T17:36:50Z | |
Document date | 2020 | |
Citation | HIJAZI, Hadia et al. Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. Human Mutation, v. 41, n. 1, p. 150-168, 2020. | pt_BR |
ISSN | 1059-7794 | pt_BR |
URI | https://www.arca.fiocruz.br/handle/icict/40580 | |
Language | eng | pt_BR |
Publisher | Wiley-Liss | pt_BR |
Rights | restricted access | pt_BR |
Title | Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome | pt_BR |
Type | Article | pt_BR |
DOI | 10.1002/humu.23902 | |
Abstract | Xq22 deletions that encompass PLP1 (Xq22-PLP1-DEL) are notable for variable expressivity of neurological disease traits in females ranging from a mild late-onset form of spastic paraplegia type 2 (MIM# 312920), sometimes associated with skewed X-inactivation, to an early-onset neurological disease trait (EONDT) of severe developmental delay, intellectual disability, and behavioral abnormalities. Size and gene content of Xq22-PLP1-DEL vary and were proposed as potential molecular etiologies underlying variable expressivity in carrier females where two smallest regions of overlap (SROs) were suggested to influence disease. We ascertained a cohort of eight unrelated patients harboring Xq22-PLP1-DEL and performed high-density array comparative genomic hybridization and breakpoint-junction sequencing. Molecular characterization of Xq22-PLP1-DEL from 17 cases (eight herein and nine published) revealed an overrepresentation of breakpoints that reside within repeats (11/17, ~65%) and the clustering of ~47% of proximal breakpoints in a genomic instability hotspot with characteristic non-B DNA density. These findings implicate a potential role for genomic architecture in stimulating the formation of Xq22-PLP1-DEL. The correlation of Xq22-PLP1-DEL gene content with neurological disease trait in female cases enabled refinement of the associated SROs to a single genomic interval containing six genes. Our data support the hypothesis that genes contiguous to PLP1 contribute to EONDT. | pt_BR |
Affilliation | Department of Molecular and Human Genetics. Baylor College of Medicine.Houston, Texas, USA. | pt_BR |
Affilliation | Universidade Federal de Minas Gerais. Departamento de Biologia Geral. Programa de Pós-Graduação em Genética. Belo Horizonte, MG, Brasil / Fundação Oswaldo Cruz. Instituto René Rachou. Belo Horizonte, MG, Brasil. | pt_BR |
Affilliation | Regeneron Genetics Center, Regeneron Pharmaceuticals, Inc, Tarrytown, New York, USA. | pt_BR |
Affilliation | Medical Genetics Division. IRCCS "Casa Sollievo della Sofferenza" Foundation. San Giovanni Rotondo (FG), Italy. | pt_BR |
Affilliation | Department of Neurology. Washington University School of Medicine.St. Louis, Missouri, USA. | pt_BR |
Affilliation | Division of Medical Genetics. Department of Pediatrics. Stanford University School of Medicine. Palo Alto, California, USA / Department of Pathology. Stanford University School of Medicine. Palo Alto, California, USA. | pt_BR |
Affilliation | Division of Medical Genetics. Department of Pediatrics. Stanford University School of Medicine. Palo Alto, California, USA / Department of Genetics. Stanford University School of Medicine. Palo Alto, California, USA. | pt_BR |
Affilliation | Departments of Neurology and Pediatrics. Johns Hopkins University School of Medicine. Baltimore, Maryland, USA / Department of Neurogenetics. Kennedy Krieger Institute. Baltimore, Maryland, USA. | pt_BR |
Affilliation | Department of Neurology. Boston Children's Hospital. Boston, Massachusetts, USA. | pt_BR |
Affilliation | Molecular Diagnostic Laboratory. Greenwood Genetic Center. Greenwood, South Carolina, USA. | pt_BR |
Affilliation | Molecular Diagnostic Laboratory. Greenwood Genetic Center. Greenwood, South Carolina, USA. | pt_BR |
Affilliation | Molecular Diagnostic Laboratory. Greenwood Genetic Center. Greenwood, South Carolina, USA. | pt_BR |
Affilliation | Nemours Biomedical Research. Nemours/Alfred I. duPont Hospital for Children. Wilmington, Delaware, USA. | pt_BR |
Affilliation | Medical Genetics Division. IRCCS "Casa Sollievo della Sofferenza" Foundation. San Giovanni Rotondo (FG), Italy. | pt_BR |
Affilliation | Clinical Genomics. WuXi NextCODE. Cambridge, Massachusetts, USA. | pt_BR |
Affilliation | Department of Molecular and Human Genetics. Baylor College of Medicine.Houston, Texas, USA. | pt_BR |
Affilliation | Department of Molecular and Human Genetics. Baylor College of Medicine.Houston, Texas, USA. | pt_BR |
Affilliation | Nemours Biomedical Research. Nemours/Alfred I. duPont Hospital for Children. Wilmington, Delaware, USA. | pt_BR |
Affilliation | Nemours Biomedical Research. Nemours/Alfred I. duPont Hospital for Children. Wilmington, Delaware, USA. | pt_BR |
Affilliation | Department of Physiology and Biophysics. College of Medicine. University of Arkansas for Medical Sciences. Little Rock, Arkansas, USA. | pt_BR |
Affilliation | Department of Physiology and Biophysics. College of Medicine. University of Arkansas for Medical Sciences. Little Rock, Arkansas, USA. | pt_BR |
Affilliation | Nemours Biomedical Research. Nemours/Alfred I. duPont Hospital for Children. Wilmington, Delaware, USA. | pt_BR |
Affilliation | Departments of Neurology and Pediatrics. Johns Hopkins University School of Medicine. Baltimore, Maryland, USA. | pt_BR |
Affilliation | Department of Mental Retardation and Birth Defect Research. National Institute of Neuroscience. National Center of Neurology and Psychiatry. Kodaira, Japan. | pt_BR |
Affilliation | State Key Laboratory of Genetic Engineering at School of Life Sciences. Obstetrics and Gynecology Hospital. Institute of Reproduction and Development. Fudan University. Shanghai, China. | pt_BR |
Affilliation | Department of Molecular and Human Genetics. Baylor College of Medicine.Houston, Texas/Section of Neurology. Department of Pediatrics. Baylor College of Medicine. Houston, Texas, USA. | pt_BR |
Affilliation | Department of Molecular and Human Genetics. Baylor College of Medicine.Houston, Texas, USA. | pt_BR |
Affilliation | Nemours Biomedical Research. Nemours/Alfred I. duPont Hospital for Children. Wilmington, Delaware, USA. | pt_BR |
Affilliation | Department of Molecular and Human Genetics. Baylor College of Medicine.Houston, Texas, USA / Human Genome Sequencing Center. Baylor College of Medicine. Houston, Texas, USA / Department of Pediatrics. Baylor College of Medicine. Houston, Texas, USA / Texas Children's Hospital. Houston, Texas, USA. | pt_BR |
Subject | BEX3 | pt_BR |
Subject | PLP1 | pt_BR |
Subject | TCEAL1 | pt_BR |
Subject | Contiguous gene deletion syndrome | pt_BR |
Subject | Intrachromosomal repeats | pt_BR |
Subject | Xex limited traits | pt_BR |
Embargo date | 2035-01-01 | |