Cerebral Palsy

Gene: CLCN4

Green List (high evidence)

Additional hemizygous male (de novo missense mutation) in monocentric cohort study (PMID: 39213953). Clinically spastic quadriplegia, epilepsy, osteoporosis, cerebral atrophy, corpus callosum hypoplasia.

Created: 2 Sep 2024, 6:39 a.m. | Last Modified: 2 Sep 2024, 6:39 a.m.

Panel Version: 1.367

2 additional hemizygous males reported in large-scale exome sequencing study (PMID: 38693247). Detailed clinical information not supplied. Movement disorders, including one female diagnosed with cerebral palsy, are a common feature in a series of patients heterozygous for the recurrent p.A555V and p.D89N variants (PMID: 37789889).

Individuals with Raynaud-Claes syndrome have been reported to show white matter changes on cerebral neuroimaging and progressive neurological symptoms, including movement disorders and spasticity.

Created: 25 Jun 2024, 6:04 a.m. | Last Modified: 25 Jun 2024, 6:04 a.m.

Panel Version: 1.315

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Raynaud-Claes syndrome MIM#300114

Publications

• PMID: 38693247
• PMID: 37789889
• PMID: 39213953

I don't know

One female patient presented in a large cohort study with phenotypic overlap to Raynaud-Claes syndrome (ID, epilepsy and language deficits). The mutation is a heterozygous missense mutation previously reported to cause Raynaud-Claes syndrome.
Sources: Literature

Created: 23 May 2023, 1:30 a.m.

Mode of inheritance
X-LINKED: hemizygous mutation in males, monoallelic mutations in females may cause disease (may be less severe, later onset than males)

Phenotypes
Raynaud-Claes syndrome MIM#300114

Publications

• 34788679