Hereditary Neuropathy - complex

Gene: CLP1

Green List (high evidence)

Condition described by severely delayed psychomotor development, progressive microcephaly, spasticity, seizures, and brain abnormalities, including brain atrophy and delayed myelination. Some patients have dysmorphic features and an axonal sensorimotor neuropathy.

Age of onset is typical within the first few years of life and during pregnancy.

PMID: 24766809
8 individuals from 4 unrelated consanguineous Turkish families
All affected individuals were found to be present with a homozygous mutation p.R140H in CLP1 while parents were confirmed heterozygous carriers. All affected individuals had progressive axonal sensorimotor neuropathy.
p.R140H is predicted to be a founder mutation in the Turkish population.

PMID: 24766810
Multiple affected individuals from 4 unrelated consanguineous Turkish families present with the homozygous p.R140H mutation with neuropathy phenotypes.
Zebrafish model showed the CLP1 mutant zebrafish showed evidence of hind brain neurodegeneration similar to the human p.R140H suggesting that loss of is a mechanism of disease.

Created: 2 Jun 2023, 12:44 a.m. | Last Modified: 2 Jun 2023, 12:44 a.m.

Panel Version: 0.166

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Pontocerebellar hypoplasia, type 10 (MIM#615803)

Publications

• 24766809
• 24766810