Hearing lossGene: SPATA5
Comment on list classification: As per review, multiple published cases with congenital HL as well as ID and epileptic encephalopathy, progressive microcephaly where congenital HL may be initial presentation prior to onset of other problems.
Publication of a case where sibling of a typically affected patient has isolated SNHL (PMID: 28293831) and biallelic pathogenic variants
Created: 11 Jun 2018, 11:20 a.m.
Tanaka et al PMID: 26299366 identified "14 individuals [from 10 families] with microcephaly, developmental delay, intellectual disability, hypotonia, spasticity, seizures, sensorineural hearing loss, cortical visual impairment, and rare autosomal-recessive predicted pathogenic variants" in SPATA5
Puussep et al PMID: 29343804 describes 5 further patients "with psychomotor developmental delay, microcephaly, epilepsy and hearing impairment, who were thought clinically to have a mitochondrial disease with subsequent whole-exome sequencing analysis detecting compound heterozygous variants in the SPATA5 gene"
Szczaluba et al PMID: 28293831 describes a family where a sibling has isolated sensorineural hearing loss and the same two pathogenic SPATA5 variants as her more typically affected sister.
In addition, typically affected individuals may present as congenital SNHL on newborn hearing screen prior to onset of seizures, microcephaly and intellectual disability.
Created: 11 Jun 2018, 11:17 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Epilepsy, hearing loss, and mental retardation syndrome 616577
Variants in this GENE are reported as part of current diagnostic practice
Publications for gene: SPATA5 were set to 26299366; 29343804; 28293831
Gene: spata5 has been classified as Green List (High Evidence).
SPATA5 was added to Congenital hearing impairment (profound/severe) panel. Sources: Literature
SPATA5 was created by Rachel Jones