دورية أكاديمية
Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome.
| العنوان: | Xq22 deletions and correlation with distinct neurological disease traits in females: Further evidence for a contiguous gene syndrome. |
|---|---|
| المؤلفون: | Hijazi H; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Coelho FS; Programa de Pós-Graduação em Genética Departmento de Biologia Geral, UFMG, Belo Horizonte, Minas Gerais, Brazil.; Instituto René Rachou, FIOCRUZ, Belo Horizonte, Minas Gerais, Brazil., Gonzaga-Jauregui C; Regeneron Genetics Center, Regeneron Pharmaceuticals, Inc, Tarrytown, New York., Bernardini L; Medical Genetics Division, IRCCS 'Casa Sollievo della Sofferenza' Foundation, San Giovanni Rotondo (FG), Italy., Mar SS; Department of Neurology, Washington University School of Medicine, St. Louis, Missouri., Manning MA; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, California.; Department of Pathology, Stanford University School of Medicine, Palo Alto, California., Hanson-Kahn A; Division of Medical Genetics, Department of Pediatrics, Stanford University School of Medicine, Palo Alto, California.; Department of Genetics, Stanford University School of Medicine, Palo Alto, California., Naidu S; Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland.; Department of Neurogenetics, Kennedy Krieger Institute, Baltimore, Maryland., Srivastava S; Department of Neurology, Boston Children's Hospital, Boston, Massachusetts., Lee JA; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, South Carolina., Jones JR; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, South Carolina., Friez MJ; Molecular Diagnostic Laboratory, Greenwood Genetic Center, Greenwood, South Carolina., Alberico T; Nemours Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware., Torres B; Medical Genetics Division, IRCCS 'Casa Sollievo della Sofferenza' Foundation, San Giovanni Rotondo (FG), Italy., Fang P; Clinical Genomics, WuXi NextCODE, Cambridge, Massachusetts., Cheung SW; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Song X; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Davis-Williams A; Nemours Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware., Jornlin C; Nemours Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware., Wight PA; Department of Physiology and Biophysics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas., Patyal P; Department of Physiology and Biophysics, College of Medicine, University of Arkansas for Medical Sciences, Little Rock, Arkansas., Taube J; Nemours Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware., Poretti A; Departments of Neurology and Pediatrics, Johns Hopkins University School of Medicine, Baltimore, Maryland., Inoue K; Department of Mental Retardation and Birth Defect Research, National Institute of Neuroscience, National Center of Neurology and Psychiatry, Kodaira, Japan., Zhang F; State Key Laboratory of Genetic Engineering at School of Life Sciences, Obstetrics and Gynecology Hospital, Institute of Reproduction and Development, Fudan University, Shanghai, China., Pehlivan D; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Section of Neurology, Department of Pediatrics, Baylor College of Medicine, Houston, Texas., Carvalho CMB; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas., Hobson GM; Nemours Biomedical Research, Nemours/Alfred I. duPont Hospital for Children, Wilmington, Delaware., Lupski JR; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas.; Human Genome Sequencing Center, Baylor College of Medicine, Houston, Texas.; Department of Pediatrics, Baylor College of Medicine, Houston, Texas.; Texas Children's Hospital, Houston, Texas. |
| المصدر: | Human mutation [Hum Mutat] 2020 Jan; Vol. 41 (1), pp. 150-168. Date of Electronic Publication: 2019 Nov 14. |
| نوع المنشور: | Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Liss Country of Publication: United States NLM ID: 9215429 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1098-1004 (Electronic) Linking ISSN: 10597794 NLM ISO Abbreviation: Hum Mutat Subsets: MEDLINE |
| أسماء مطبوعة: | Original Publication: New York : Wiley-Liss, c1992- |
| مواضيع طبية MeSH: | Chromosome Deletion* , Chromosomes, Human, X* , Genetic Association Studies*/methods , Genetic Predisposition to Disease* , Quantitative Trait, Heritable*, Nervous System Diseases/*diagnosis , Nervous System Diseases/*genetics, Child ; Child, Preschool ; Chromosome Breakpoints ; Chromosome Mapping ; Comparative Genomic Hybridization ; Female ; Humans ; Male ; Pedigree ; Phenotype ; Repetitive Sequences, Nucleic Acid ; Sex Factors ; Syndrome ; X Chromosome Inactivation |
| مستخلص: | 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. (© 2019 Wiley Periodicals, Inc.) |
| References: | Brain Dev. 2012 Nov;34(10):852-6. (PMID: 22401669) Nat Rev Genet. 2016 Apr;17(4):224-38. (PMID: 26924765) Neurogenetics. 2005 Feb;6(1):1-16. (PMID: 15627202) Pac Symp Biocomput. 2002;:115-26. (PMID: 11928468) Hum Mol Genet. 2015 Jul 15;24(14):4061-77. (PMID: 25908615) Genome Res. 2013 Feb;23(2):228-35. (PMID: 23124520) Hum Mutat. 2013 Jan;34(1):210-20. (PMID: 22965494) Genome Res. 2018 Aug;28(8):1228-1242. (PMID: 29907612) Clin Genet. 2012 Jun;81(6):532-41. (PMID: 21623770) Nucleic Acids Res. 1992 Mar 11;20(5):1117-22. (PMID: 1549475) J Neurosci. 2015 May 6;35(18):7190-202. (PMID: 25948268) Handb Clin Neurol. 2018;148:701-722. (PMID: 29478609) Am J Hum Genet. 2002 Oct;71(4):838-53. (PMID: 12297985) Neuron. 1997 Jul;19(1):205-18. (PMID: 9247276) Nat Genet. 2010 May;42(5):385-91. (PMID: 20364136) DNA Repair (Amst). 2014 Jul;19:143-51. (PMID: 24767258) Am J Med Genet A. 2017 Apr;173(4):1124-1127. (PMID: 28328133) J Hum Genet. 2014 Jun;59(6):300-6. (PMID: 24646727) Nat Genet. 2009 Jul;41(7):849-53. (PMID: 19543269) Adv Exp Med Biol. 2017;1042:549-581. (PMID: 29357073) Genome Med. 2019 Dec 9;11(1):80. (PMID: 31818324) Hum Mol Genet. 2006 Jul 15;15(14):2250-65. (PMID: 16774974) Science. 2002 Aug 9;297(5583):1003-7. (PMID: 12169732) Cell. 2017 Feb 23;168(5):830-842.e7. (PMID: 28235197) Hum Mol Genet. 2017 May 15;26(10):1927-1941. (PMID: 28334874) Nat Genet. 2011 Oct 02;43(11):1074-81. (PMID: 21964572) Proc Natl Acad Sci U S A. 2003 Sep 30;100(20):11484-9. (PMID: 14500911) Am J Hum Genet. 2005 Dec;77(6):966-87. (PMID: 16380909) Front Mol Biosci. 2017 Feb 24;4:7. (PMID: 28286750) PLoS One. 2012;7(12):e51064. (PMID: 23251422) Mol Cell Biol. 1997 Sep;17(9):5559-70. (PMID: 9271431) Nucleic Acids Res. 2016 Jul 8;44(12):5673-88. (PMID: 27084947) Am J Hum Genet. 2013 Mar 7;92(3):375-86. (PMID: 23472757) Proc Natl Acad Sci U S A. 2006 Feb 21;103(8):2677-82. (PMID: 16473937) BMC Genomics. 2016 Nov 9;17(1):900. (PMID: 27829352) Trends Biochem Sci. 2007 Jun;32(6):271-8. (PMID: 17493823) Trends Genet. 2014 Mar;30(3):85-94. (PMID: 24503142) Nucleic Acids Res. 2013 Jan;41(Database issue):D94-D100. (PMID: 23125372) Mol Cell Biol. 2013 Nov;33(21):4266-81. (PMID: 24001773) Cell. 2019 Mar 7;176(6):1310-1324.e10. (PMID: 30827684) Genome Res. 2003 Jan;13(1):103-7. (PMID: 12529312) BMC Neurol. 2016 Aug 09;16:132. (PMID: 27506666) Hum Mol Genet. 2011 May 15;20(10):1975-88. (PMID: 21355048) J Biol Chem. 2000 Jun 9;275(23):17566-70. (PMID: 10764727) Trends Genet. 2000 Sep;16(9):418-20. (PMID: 10973072) J Mol Biol. 2013 Nov 29;425(23):4767-81. (PMID: 24095858) Cell. 2013 May 9;153(4):919-29. (PMID: 23663786) Genome Res. 2001 Jun;11(6):1005-17. (PMID: 11381028) Am J Hum Genet. 1991 Dec;49(6):1355-60. (PMID: 1720927) Mol Biol Evol. 2013 Dec;30(12):2588-601. (PMID: 24023392) Mol Carcinog. 2009 Apr;48(4):273-85. (PMID: 19306308) Case Rep Genet. 2015;2015:453105. (PMID: 25789183) Nature. 2015 Oct 1;526(7571):68-74. (PMID: 26432245) Ann Neurol. 2006 Feb;59(2):398-403. (PMID: 16374829) Cell. 2007 Dec 28;131(7):1235-47. (PMID: 18160035) PLoS Genet. 2015 Mar 06;11(3):e1005050. (PMID: 25749076) Cell Mol Life Sci. 2010 Jan;67(1):43-62. (PMID: 19727556) Pediatr Neurol. 2013 Dec;49(6):477-81. (PMID: 24095575) Am J Hum Genet. 1992 Dec;51(6):1229-39. (PMID: 1281384) Genet Med. 2012 Oct;14(10):868-76. (PMID: 22722545) Biochim Biophys Acta Gen Subj. 2018 Mar;1862(3):649-659. (PMID: 29246583) J Pediatr. 1986 Aug;109(2):231-41. (PMID: 3016222) Semin Cancer Biol. 2010 Aug;20(4):222-33. (PMID: 20541013) Am J Hum Genet. 2015 Aug 6;97(2):238-49. (PMID: 26189818) J Biol Chem. 2006 Aug 25;281(34):24531-43. (PMID: 16793772) Nat Genet. 2013 Nov;45(11):1319-26. (PMID: 24056715) Hum Mol Genet. 2009 Jun 15;18(12):2188-203. (PMID: 19324899) |
| معلومات مُعتمدة: | R01 NS058978 United States NS NINDS NIH HHS; UM1 HG006542 United States HG NHGRI NIH HHS; R35 NS105078 United States NS NINDS NIH HHS; P20 GM103446 United States GM NIGMS NIH HHS; R01 NS058529 United States NS NINDS NIH HHS; R01 GM106373 United States GM NIGMS NIH HHS; P30 GM114736 United States GM NIGMS NIH HHS |
| فهرسة مساهمة: | Keywords: BEX3; PLP1; TCEAL1; contiguous gene deletion syndrome; intrachromosomal repeats; sex limited traits |
| تواريخ الأحداث: | Date Created: 20190827 Date Completed: 20210519 Latest Revision: 20210519 |
| رمز التحديث: | 20221213 |
| مُعرف محوري في PubMed: | PMC6953250 |
| DOI: | 10.1002/humu.23902 |
| PMID: | 31448840 |
| قاعدة البيانات: | MEDLINE |
Full Text Finder | تدمد: | 1098-1004 |
|---|---|
| DOI: | 10.1002/humu.23902 |