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PMID: 25057125 Published · ppublish English Case Reports Journal Article Research Support, N.I.H., Extramural Research Support, Non-U.S. Gov't

Expansion of the clinical phenotype associated with mutations in activity-dependent neuroprotective protein.

Journal of medical genetics ·Vol. 51 ·No. 9 ·2014-09-00 ·Pages 587-9

Pescosolido MF, Schwede M, Johnson Harrison A, Schmidt M, Gamsiz ED, Chen WS, Donahue JP, Shur N, Jerskey BA, Phornphutkul C, Morrow EM

Abstract

暂无摘要

Keywords
Clinical genetics Genetics Molecular genetics Neurosciences Visual development
MeSH Terms
Abnormalities, Multiple/genetics,pathology Base Sequence Child Child Development Disorders, Pervasive/genetics,pathology Female Genetic Association Studies Homeodomain Proteins/genetics Humans Molecular Sequence Data Mutation/genetics Nerve Tissue Proteins/genetics Phenotype Sequence Analysis, DNA
Chemicals
ADNP protein, human Homeodomain Proteins Nerve Tissue Proteins
Authors & Affiliations
11 authors, click to expand affiliations / ORCID
Pescosolido Matthew F
Department of Molecular Biology, Cell Biology and Biochemistry, Providence, Rhode Island, USA Lab for Molecular Medicine, Institute for Brain Science, Brown University, Providence, Rhode Island, USA Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital and Department of Psychiatry and Human Behavior, Alpert Medical School of Brown University, East Providence, Rhode Island, USA Rhode Island Consortium of Autism Research and Treatment (RI-CART), Providence, Rhode Island, USA.
Schwede Matthew
Department of Molecular Biology, Cell Biology and Biochemistry, Providence, Rhode Island, USA.
Johnson Harrison Ashley
Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital and Department of Psychiatry and Human Behavior, Alpert Medical School of Brown University, East Providence, Rhode Island, USA Rhode Island Consortium of Autism Research and Treatment (RI-CART), Providence, Rhode Island, USA.
Schmidt Michael
Department of Molecular Biology, Cell Biology and Biochemistry, Providence, Rhode Island, USA Rhode Island Consortium of Autism Research and Treatment (RI-CART), Providence, Rhode Island, USA.
Gamsiz Ece D
Department of Molecular Biology, Cell Biology and Biochemistry, Providence, Rhode Island, USA Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital and Department of Psychiatry and Human Behavior, Alpert Medical School of Brown University, East Providence, Rhode Island, USA Rhode Island Consortium of Autism Research and Treatment (RI-CART), Providence, Rhode Island, USA.
Chen Wendy S
Division of Ophthalmology, Department of Surgery, Alpert Medical School of Brown University, Providence, Rhode Island, USA.
Donahue John P
Division of Ophthalmology, Department of Surgery, Alpert Medical School of Brown University, Providence, Rhode Island, USA.
Shur Natasha
Department of Pediatrics, Division of Genetics, Children's Hospital at Albany Medical Center, Albany, New York, USA.
Jerskey Beth A
Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital and Department of Psychiatry and Human Behavior, Alpert Medical School of Brown University, East Providence, Rhode Island, USA Rhode Island Consortium of Autism Research and Treatment (RI-CART), Providence, Rhode Island, USA.
Phornphutkul Chanika
Department of Pediatrics, Division of Human Genetics, Rhode Island Hospital and Brown University, Providence, Rhode Island, USA.
Morrow Eric M
Department of Molecular Biology, Cell Biology and Biochemistry, Providence, Rhode Island, USA Developmental Disorders Genetics Research Program, Emma Pendleton Bradley Hospital and Department of Psychiatry and Human Behavior, Alpert Medical School of Brown University, East Providence, Rhode Island, USA Rhode Island Consortium of Autism Research and Treatment (RI-CART), Providence, Rhode Island, USA.
References (11)
11 references, click to expand
  1. Sporadic autism exomes reveal a highly interconnected protein network of de novo mutations.
    Nature. 2012 Apr 04;485(7397):246-50 PMID: 22495309
  2. Cloning and characterization of the human activity-dependent neuroprotective protein.
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  3. Activity-dependent neuroprotective protein snippet NAP reduces tau hyperphosphorylation and enhances learning in a novel transgenic mouse model.
    J Pharmacol Exp Ther. 2007 Nov;323(2):438-49 PMID: 17720885
  4. XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing.
    Am J Hum Genet. 2013 Aug 8;93(2):368-83 PMID: 23871722
  5. Activity-dependent neuroprotective protein (ADNP) differentially interacts with chromatin to regulate genes essential for embryogenesis.
    Dev Biol. 2007 Mar 15;303(2):814-24 PMID: 17222401
  6. A SWI/SNF-related autism syndrome caused by de novo mutations in ADNP.
    Nat Genet. 2014 Apr;46(4):380-4 PMID: 24531329
  7. Multiplex targeted sequencing identifies recurrently mutated genes in autism spectrum disorders.
    Science. 2012 Dec 21;338(6114):1619-22 PMID: 23160955
  8. Activity-dependent neuroprotective protein: a novel gene essential for brain formation.
    Brain Res Dev Brain Res. 2003 Aug 12;144(1):83-90 PMID: 12888219
  9. Systematic and integrative analysis of large gene lists using DAVID bioinformatics resources.
    Nat Protoc. 2009;4(1):44-57 PMID: 19131956
  10. Standardizing ADOS scores for a measure of severity in autism spectrum disorders.
    J Autism Dev Disord. 2009 May;39(5):693-705 PMID: 19082876
  11. Complete sequence of a novel protein containing a femtomolar-activity-dependent neuroprotective peptide.
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Article Info
Journal
Journal of medical genetics
Abbr.
J Med Genet
ISSN
1468-6244
DOI
10.1136/jmedgenet-2014-102444
Published
2014-09-00
Epub
2014-00-23
Pages
587-9
Language
English
Region
England
NLM ID
2985087R
PMCID
PMC4135390
Subset
IM
Grants
NHLBI NIH HHS · HL-102924 · United States
NHLBI NIH HHS · RC2 HL102924 · United States
NHLBI NIH HHS · HL-102926 · United States
NHLBI NIH HHS · HL-102925 · United States
NHLBI NIH HHS · RC2 HL103010 · United States
NHLBI NIH HHS · HL-102923 · United States
NINDS NIH HHS · T32 NS062443 · United States
NHLBI NIH HHS · RC2 HL102923 · United States
NHLBI NIH HHS · UC2 HL102926 · United States
NHLBI NIH HHS · UC2 HL103010 · United States
NHLBI NIH HHS · HL-103010 · United States
NIGMS NIH HHS · P20 GM103645 · United States
NHLBI NIH HHS · RC2 HL102926 · United States
NHLBI NIH HHS · UC2 HL102923 · United States
NHLBI NIH HHS · UC2 HL102924 · United States
NHLBI NIH HHS · RC2 HL102925 · United States
NHLBI NIH HHS · UC2 HL102925 · United States
PHS HHS · NIH NIGMS P20GM103645 · United States
External Links
PubMed source DOI: 10.1136/jmedgenet-2014-102444 PMC Full Text View journal details
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