Monogenic hearing loss
Gene: MYH9
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
New review confirms gene status and mode of inheritance; no changes required.Created: 1 Jun 2018, 2:55 p.m.
Comment on mode of inheritance: Not on imprinted gene list.Created: 17 Feb 2016, 5:12 p.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
#153640:Fechtner syndrome[High-tone sensorineural deafness (67% of patients); Congenital cataractsJuvenile glaucoma; NephritisEnd stage renal disease (20-40 years)(28% of patients); ThrombocytopeniaGiant plateletsLeukocyte inclusion bodies (Dohle-like bodies)Variable bleeding episodes (menorrhagia, easy bruisability, postoperative hemorrhage); ProteinuriaHematuriaLeukocyte inclusion bodies (EM) - intermediate filaments and ribosome clusters irregularly dispersed in cytoplasmModerate to severe thrombocytopenia (30-90 x 10(9)/l)Normal to prolonged bleeding timeMedian mean platelet volume (MPV) 20flNormal platelet aggregation response to epinephrine, arachidonic acid (AA), adenosine 5' -diphosphate (ADP), collagen, and ristocetin]; #153650:Epstein syndrome[Deafness, bilateral sensorineural, high frequency (100% of patients); Cataract (Alport syndrome with macrothrombocytopenia)No cataract (Epstein syndrome); Hypertension, moderate, secondary to renal disease; NephritisEnd stage renal disease (33% of patients)Hypertension, moderate; Mild bleeding episodes (epistaxis, GI bleeding, menorrhagia)ThrombocytopeniaGiant plateletsNo leukocyte inclusion bodies on Giemsa stainingMYH9-positive inclusions on immunohistochemical staining; Microscopic hematuriaProteinuriaSevere thrombocytopenia (30-60 x 10(9)/L)Normal-prolonged bleeding timeReduced platelet aggregation response to ADP, collagen, epinephrine]; #155100:May-Hegglin anomaly[Myocardial infarction (secondary to coronary artery thrombosis); No kidney disease; Mild-significant bleeding episodes (epistaxis, easy bruisability, postoperative hemorrhage, menorrhagia)ThrombocytopeniaGiant plateletsSky-blue leukocyte inclusion bodies (Dohle-like bodies) that contain clusters of ribosomes oriented along parallel microfilaments; Thrombocytopenia, mild-moderate (60-100 x 10(9)/L)Prolonged bleeding timeMedian mean platelet volume (MPV) 12.5fLNormal platelet aggregation response to epinephrine, ADP, collagen, and ristocetin]; #600208:Macrothrombocytopenia and progressive sensorineural deafness[Hearing loss, progressive sensorineural; No cataracts; No kidney disease; ThrombocytopeniaGiant plateletsNo leukocyte inclusions on Giemsa stainingMYH9-positive inclusions on immunohistochemical stainingVariable bleeding episodesAsymptomatic (easy bruisability, postoperative hemorrhage); Thrombocytopenia (33-120 x 10(9)/L)Normal to prolonged bleeding time]; #603622:Deafness, autosomal dominant 17[Hearing loss, high-frequency (onset in childhood-adolescence)Deafness, moderate-severe (onset in third decade)Cochleosaccular dysplasiaOrgan of Corti degeneration]; #605249:Sebastian syndrome[No deafness; No cataracts; No nephritis; Asymptomatic to mild bleeding episodes (epistaxis, postoperative hemorrhage)ThrombocytopeniaGiant plateletsLeukocyte inclusion bodies (Dohle-like bodies); Mild to moderate thrombocytopenia (40-120 x 10(9)/l)Median mean platelet volume (MPV) 18flMildly prolonged bleeding time 10-12 minutesNormal platelet aggregation response to arachidonic acid (AA), adenosine 5' -diphosphate (ADP), collagen, and ristocetin]
Comment when marking as ready: Expert review and OMIM confirmedCreated: 29 Jan 2016, 3:55 p.m.
Phenotypes for MYH9 were set to Nonsyndromic Hearing Loss, Dominant; May-Hegglin anomaly, 155100; Fechtner syndrome, 153640; Sebastian syndrome, 605249; Deafness, autosomal dominant 17, 603622; Epstein syndrome, 153650; Macrothrombocytopenia and progressive sensorineural deafness, 600208
Publications for MYH9 were set to PMID:10603121; 10739770; 10973259; 10973260; 11023810; 11093280; 11159552; 11590545; 11752022; 11776386; 11935325; 11943476; 12237319; 12533692; 12649151; 12792306; 1449176; 15064761; 15496418; 15555549; 15613099; 15667538; 16162639; 16630581; 16969870; 17146397; 18059020; 1860190; 18794854; 18794856; 1912569; 19450438; 1967836; 20485438; 20944748; 21501827; 24436421; 5011389; 8280620; 9390828
Mode of inheritance for MYH9 was changed to MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
This gene has been classified as Green List (High Evidence).
Model of inheritance for gene MYH9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYH9 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene MYH9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYH9 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene MYH9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYH9 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
Model of inheritance for gene MYH9 was changed to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
MYH9 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert
MYH9 was added to Congenital hearing impairment (Profound/Severe)panel. Sources: Illumina TruGenome Clinical Sequencing Services,UKGTN,Emory Genetics Laboratory,Radboud University Medical Center, Nijmegen,Expert