Monogenic hearing loss
Gene: ESRP1
Comment on list classification: Changing rating from grey to amber. 1 case with segregation data reported, plus mouse knockout model.Created: 20 Sep 2020, 9:01 a.m. | Last Modified: 20 Sep 2020, 9:01 a.m.
Panel Version: 2.91
Provisionally associated with ?Deafness, autosomal recessive 109 #618013 (AR) in OMM.
PMID: 29107558 - Rohacek et al 2017 - report two siblings with healthy non-consanguineous parents who have congenital profound bilateral SNHL with an unusual vestibular dysplasia. Using WES they found compound heterozygous variants in the ESRP1 gene (c.665_683 del, p.Asp222Glyfs*32 and c.775C>G, p.Leu259Val). The parents each had one variant and the 4 unaffected siblings had either 1 or no variants. Esrp1−/− mouse embryos showed ear defects. In an additional cohort of 144 probands with bilateral SNHL screened for mutations in ESRP1 and ESRP2 rare heterozygous missense substitutions in ESRP1 were found in three samples but no homozygous or compound het variants.Created: 20 Sep 2020, 9 a.m. | Last Modified: 20 Sep 2020, 9 a.m.
Panel Version: 2.89
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
?Deafness, autosomal recessive 109, 618013
Publications
Single family reported with affected sibs, mouse model. Amber or Red.
Sources: Expert listCreated: 29 Jan 2020, 12:38 a.m.
Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal
Phenotypes
Deafness, autosomal recessive 109, MIM# 618013
Publications
Gene: esrp1 has been classified as Amber List (Moderate Evidence).
Phenotypes for gene: ESRP1 were changed from Deafness, autosomal recessive 109, MIM# 618013 to Deafness, autosomal recessive 109, 618013
gene: ESRP1 was added gene: ESRP1 was added to Hearing loss. Sources: Expert list Mode of inheritance for gene: ESRP1 was set to BIALLELIC, autosomal or pseudoautosomal Publications for gene: ESRP1 were set to 29107558 Phenotypes for gene: ESRP1 were set to Deafness, autosomal recessive 109, MIM# 618013 Review for gene: ESRP1 was set to AMBER