Review and metabolomic profiling of unsolved case reveals newly reported autosomal dominant congenital disorder of glycosylation, type Iw formerly thought to only be an autosomal recessive condition.

Congenital disorders of glycosylation (CDGs) STT3A Undiagnosed diseases network (UDN)

Journal

Molecular genetics and metabolism reports
ISSN: 2214-4269
Titre abrégé: Mol Genet Metab Rep
Pays: United States
ID NLM: 101624422

Informations de publication

Date de publication:
Dec 2024
Historique:
received: 12 04 2024
revised: 20 09 2024
accepted: 24 09 2024
medline: 22 10 2024
pubmed: 22 10 2024
entrez: 22 10 2024
Statut: epublish

Résumé

Autosomal dominant congenital disorder of glycosylation (CDG) type Iw (OMIM# 619714) is caused by a heterozygous mutation in the

Identifiants

DOI: 10.1016/j.ymgmr.2024.101145 PMID: 39435313 PMC: PMC11491968
pubmed: 39435313
doi: 10.1016/j.ymgmr.2024.101145
pii: S2214-4269(24)00098-3
pmc: PMC11491968
doi:

Types de publication

Journal Article

Langues

eng

Pagination

101145

Informations de copyright

© 2024 The Authors.

Déclaration de conflit d'intérêts

The authors declare no conflicts of interest.

Auteurs

Kimberly M Ezell (KM)

Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

Yutaka Furuta (Y)

Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

Devin Oglesbee (D)

Department of Laboratory Medicine and Pathology, Mayo Clinic College of Medicine, Rochester, MN 55905, USA.

Eniko K Pivnick (EK)

Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, University of Tennessee Health Science Center, Memphis, TN, United States.

David Rinker (D)

Department of Biological Sciences, Center for Structural Biology, Vanderbilt University, Nashville, TN, USA.

Jonathan H Sheehan (JH)

Department of Internal Medicine, Division of Infectious Diseases, Washington University School of Medicine in St. Louis, St. Louis, MO, USA.

Rory J Tinker (RJ)

Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

Rizwan Hamid (R)

Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

Joy D Cogan (JD)

Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

Lynette Rives (L)

Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

Serena Neumann (S)

Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

Brian Corner (B)

Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

Mary Koziura (M)

Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

John A Phillips (JA)

Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, TN, USA.

Classifications MeSH