Cardiomyopathy_Paediatric

Gene: CRLS1

I don't know

- Three families (4 individuals) with cardiolipin deficiency.
- Two families (one consanguineous with 2 affected siblings) with homozygous the p.(Ile109Asn) had infantile progressive encephalopathy, bull’s eye maculopathy, auditory neuropathy, diabetes insipidus, autonomic instability, cardiac defects and early death.
- The fourth individual cHet p.(Ala172Asp) and p.(Leu217Phe) presented with chronic encephalopathy with neurodevelopmental regression, congenital nystagmus with decreased vision, sensorineural hearing loss, failure to thrive and acquired microcephaly.
- Functional studies on patient cells showed increased levels of the substrate of CRLS1 and impaired mitochondrial morphology and biogenesis

*2 individuals with cardiac defects: one with LVNC, biventricular systolic dysfunction that evolved to HCM and one with biventricular dysfunction

Created: 3 Mar 2022, 1:15 a.m. | Last Modified: 3 Mar 2022, 1:15 a.m.

Panel Version: 0.123

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
Mitochondrial disease MONDO:0044970 CRLS1-related

Publications

• 35147173