A Genomic Approach to Delineating the Occurrence of Scoliosis in Arthrogryposis Multiplex Congenita.

Arthrogryposis / complications DNA Copy Number Variations Gene Expression Profiling Gene Expression Regulation Genetic Markers Genomics / methods Humans Phenotype Scoliosis / diagnosis
Amyoplasia CNV (copy number variant) DA (distal arthrogryposis) DECIPHER (DatabasE of genomiC variation and Phenotype in Humans using Ensemble Resources) HPO (human phenotype ontology) IGF2 IPA (ingenuity pathway analysis) MYOD akinesia scoliosis

Journal

Genes
ISSN: 2073-4425
Titre abrégé: Genes (Basel)
Pays: Switzerland
ID NLM: 101551097

Informations de publication

Date de publication:
08 07 2021
Historique:
received: 18 05 2021
revised: 28 06 2021
accepted: 29 06 2021
entrez: 6 8 2021
pubmed: 7 8 2021
medline: 2 2 2022
Statut: epublish

Résumé

Arthrogryposis multiplex congenita (AMC) describes a group of conditions characterized by the presence of non-progressive congenital contractures in multiple body areas. Scoliosis, defined as a coronal plane spine curvature of ≥10 degrees as measured radiographically, has been reported to occur in approximately 20% of children with AMC. To identify genes that are associated with both scoliosis as a clinical outcome and AMC, we first queried the DECIPHER database for copy number variations (CNVs). Upon query, we identified only two patients with both AMC and scoliosis (AMC-SC). The first patient contained CNVs in three genes (

Identifiants

DOI: 10.3390/genes12071052 PMID: 34356068 PMC: PMC8305424
pubmed: 34356068
pii: genes12071052
doi: 10.3390/genes12071052
pmc: PMC8305424
pii:
doi:

Substances chimiques

Genetic Markers 0

Types de publication

Journal Article Research Support, N.I.H., Extramural

Langues

eng

Sous-ensembles de citation

IM

Subventions

Organisme : Wellcome Trust
Pays : United Kingdom
Organisme : NICHD NIH HHS
ID : R03 HD099516
Pays : United States

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Auteurs

Xenia Latypova (X)

Grenoble Institut Neurosciences, Université Grenoble Alpes, Inserm, U1216, CHU Grenoble Alpes, 38000 Grenoble, France.

Stefan Giovanni Creadore (SG)

Shriners Hospitals for Children Headquarters, Tampa, FL 33607, USA.

Noémi Dahan-Oliel (N)

Shriners Hospitals for Children, Montreal, QC H4A 0A9, Canada.
School of Physical & Occupational Therapy, Faculty of Medicine and Health Sciences, McGill University, Montreal, QC H3G 2M1, Canada.

Anxhela Gjyshi Gustafson (AG)

Shriners Hospitals for Children Headquarters, Tampa, FL 33607, USA.

Steven Wei-Hung Hwang (S)

Shriners Hospitals for Children, Philadelphia, PA 19140, USA.

Tanya Bedard (T)

Alberta Congenital Anomalies Surveillance System, Alberta Health Services, Edmonton, AB T5J 3E4, Canada.

Kamran Shazand (K)

Shriners Hospitals for Children Headquarters, Tampa, FL 33607, USA.

Harold J P van Bosse (HJP)

Shriners Hospitals for Children, Philadelphia, PA 19140, USA.
ORCID: 0000-0002-4033-6540

Philip F Giampietro (PF)

Department of Pediatrics, University of Illinois-Chicago, Chicago, IL 60607, USA.
ORCID: 0000-0003-2874-8064

Klaus Dieterich (K)

Institut of Advanced Biosciences, Université Grenoble Alpes, Inserm, U1209, CHU Grenoble Alpes, 38000 Grenoble, France.
ORCID: 0000-0002-4362-4062

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Classifications MeSH

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