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Gene: CLCN4

Green List (high evidence)

Raynaud-Claes syndrome is an X-linked syndromic intellectual developmental disorder characterized by borderline to severely impaired intellectual development and impaired language development. Onset is typically early in childhood, due developmental delay. Additional features include behavioural problems, psychiatric disorders, seizures (variable forms), progressive ataxia, brain abnormalities, and facial dysmorphisms. Most heterozygous females appear unaffected, however, some can be affected with a severity spectrum that ranges up to a phenotype similar to affected males. Inter and intra familial variability in phenotype has been observed. Prenatally, pathogenic variants in CLCN4 have been detected when anomalies with corpus callosum have been observed (PMID: 37409888).

Pathogenic missense variants are rare, have supportive in silico pathogenicity scores and alter electrophysiological model in Xenopus oocytes.

Created: 29 Jul 2024, 12:24 p.m. | Last Modified: 29 Jul 2024, 12:24 p.m.

Panel Version: 1.65

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

• 27550844 33951195 25644381 34479510 37409888