This website provides information on patients with Pontocerebellar Hypoplasia type 10 (PCH10, OMIM# 615803) that is associated with mutations in the CLP1 gene, including clinical data, molecular data, management and research options.
The PCH10 caused by homozygous mutations in the CLP1 gene is a neurologic disorder characterized by poor overall growth, developmental delay, severe intellectual disability, microcephaly and seizures.
Limb spasticity with hypertonia and hyperreflexia, axonal sensorimotor neuropathy, and dysmorphic facial features were also reported in most patients. All reported patients had the same R140H mutation, suggesting a founder affect. The phenotype involved both the central and peripheral nervous systems.
This website was created to share and collect information about clinic, management and research projects to gather more knowledge and provide better treatment of patients with mutations in the CLP1 gene.
Ender Karaca, MD, ABMGG Laboratory Genetics and Genomics Fellow Cytogenetics and Medical Genomics Laboratories, Department of Genetics, The University of Alabama, Birmingham, AL, USA, firstname.lastname@example.org
James R. Lupski, MD., PhD., D.Sc. (hon), Department of Molecular and Human Genetics and Professor of Pediatrics Baylor College of Medicine, Houston, TX, USA, email@example.com