Snyder-Robinson syndrome presenting with learning disability, epilepsy, and osteoporosis: a novel

Snyder-Robinson syndrome osteoporosis seizures spermidine spermine spermine synthase

Journal

Rare : open research in rare diseases
ISSN: 2950-0087
Titre abrégé: Rare
Pays: Netherlands
ID NLM: 9918769583006676

Informations de publication

Date de publication:
2024
Historique:
medline: 21 5 2024
pubmed: 21 5 2024
entrez: 21 5 2024
Statut: ppublish

Résumé

Snyder-Robinson syndrome (SRS) is a rare X-linked recessive disorder characterized by a collection of clinical features including mild to severe intellectual disability, hypertonia, marfanoid habitus, facial asymmetry, osteoporosis, developmental delay and seizures. Whole genome sequencing (WGS) identified a mutation in the spermine synthase (

Identifiants

DOI: 10.1016/j.rare.2023.100017 PMID: 38770537 PMC: PMC11105150
pubmed: 38770537
doi: 10.1016/j.rare.2023.100017
pmc: PMC11105150
pii:
doi:

Types de publication

Journal Article

Langues

eng

Auteurs

Megumi Leung (M)

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States.
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States.

Meredith Sanchez-Castillo (M)

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States.
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States.

Newell Belnap (N)

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States.
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States.

Marcus Naymik (M)

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States.
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States.

Anna Bonfitto (A)

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States.
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States.

Jennifer Sloan (J)

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States.
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States.

Katie Hassett (K)

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States.
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States.

Wayne M Jepsen (WM)

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States.
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States.

Aravind Sankaramoorthy (A)

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States.
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States.

Tracy Murray Stewart (TM)

Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins School of Medicine, Baltimore, MD, United States.

Jackson R Foley (JR)

Sidney Kimmel Comprehensive Cancer Center, Johns Hopkins School of Medicine, Baltimore, MD, United States.

Sampathkumar Rangasamy (S)

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States.
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States.

Matthew J Huentelman (MJ)

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States.
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States.

Vinodh Narayanan (V)

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States.
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States.

Keri Ramsey (K)

Center for Rare Childhood Disorders, Translational Genomics Research Institute, Phoenix, AZ, United States.
Neurogenomics Division, Translational Genomics Research Institute, Phoenix, AZ, United States.

Classifications MeSH