UCL Discovery
UCL home » Library Services » Electronic resources » UCL Discovery

Expanding the phenotype of PPP1R21-related neurodevelopmental disorder

Almannai, Mohammed; Marafi, Dana; Zaki, Maha S; Maroofian, Reza; Efthymiou, Stephanie; Saadi, Nebal Waill; Filimban, Bilal; ... El-Hattab, Ayman W; + view all (2024) Expanding the phenotype of PPP1R21-related neurodevelopmental disorder. Clinical Genetics 10.1111/cge.14492. (In press).

[thumbnail of Efthymiou_PPP1R21 final Revised.pdf] Text
Efthymiou_PPP1R21 final Revised.pdf
Access restricted to UCL open access staff until 15 February 2025.

Download (299kB)

Abstract

PPP1R21 encodes for a conserved protein that is involved in endosomal maturation. Biallelic pathogenic variants in PPP1R21 have been associated with a syndromic neurodevelopmental disorder from studying 13 affected individuals. In this report, we present 11 additional individuals from nine unrelated families and their clinical, radiological, and molecular findings. We identified eight different variants in PPP1R21, of which six were novel variants. Global developmental delay and hypotonia are neurological features that were observed in all individuals. There is also a similar pattern of dysmorphic features with coarse faces as a gestalt observed in several individuals. Common findings in 75% of individuals with available brain imaging include delays in myelination, wavy outline of the bodies of the lateral ventricles, and slight prominence of the bodies of the lateral ventricles. PPP1R21-related neurodevelopmental disorder is associated with a consistent phenotype and should be considered in highly consanguineous individuals presenting with developmental delay/intellectual disability along with coarse facial features.

Type: Article
Title: Expanding the phenotype of PPP1R21-related neurodevelopmental disorder
Location: Denmark
DOI: 10.1111/cge.14492
Publisher version: http://dx.doi.org/10.1111/cge.14492
Language: English
Additional information: This version is the author accepted manuscript. For information on re-use, please refer to the publisher’s terms and conditions.
Keywords: Autosomal recessive (AR) trait; consanguinity; neurodevelopmental disorders (NDD); PPP1R21
UCL classification: UCL
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology
UCL > Provost and Vice Provost Offices > School of Life and Medical Sciences > Faculty of Brain Sciences > UCL Queen Square Institute of Neurology > Department of Neuromuscular Diseases
URI: https://discovery.ucl.ac.uk/id/eprint/10189285
Downloads since deposit
2Downloads
Download activity - last month
Download activity - last 12 months
Downloads by country - last 12 months

Archive Staff Only

View Item View Item