Deafness_IsolatedAndComplex
Gene: CRLS1
- 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 auditory neuropathy and one with sensorineural hearing loss
Sources: LiteratureCreated: 3 Mar 2022, 1:12 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Mitochondrial disease MONDO:0044970 CRLS1-related
Publications
Phenotypes for gene: CRLS1 were changed from Mitochondrial disease MONDO:0044970 CRLS1-related to Combined oxidative phosphorylation deficiency 57, MIM# 620167
Gene: crls1 has been classified as Green List (High Evidence).
Gene: crls1 has been classified as Green List (High Evidence).
Gene: crls1 has been classified as Green List (High Evidence).
gene: CRLS1 was added gene: CRLS1 was added to Deafness_IsolatedAndComplex. Sources: Literature Mode of inheritance for gene: CRLS1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: CRLS1 were set to 35147173 Phenotypes for gene: CRLS1 were set to Mitochondrial disease MONDO:0044970 CRLS1-related Review for gene: CRLS1 was set to GREEN