Monogenic hearing loss

Gene: MYH9

Green List (high evidence)

Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown

Green List (high evidence)

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.

Green List (high evidence)

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 confirmed

Created: 29 Jan 2016, 3:55 p.m.