title: Renal manifestations of patients with MYH9-related disorders.
abstract: MYH9-related disorders are a group of autosomal, dominantly inherited disorders caused by mutations of the MYH9 gene, which encodes the non-muscle myosin heavy chain IIA (NMMHC-IIA). May-Hegglin anomaly and Sebastian, Fechtner, and Epstein syndromes belong to this group. Macrothrombocytopenia is a common characteristic associated with MYH9-related disorders, and basophilic cytoplasmic inclusion bodies in leukocytes (Döhle-like bodies), deafness, cataracts, and glomerulopathy are also found in some patients. In this study, renal manifestations of 7 unrelated Korean patients with MYH9-related disorders were analyzed. Of a total of 7 patients, 4 had disease-related family histories. One familial case had a mutation in the tail domain of NMMHC-IIA and showed milder renal involvement with preserved renal function by his 30s. Among the 3 familial cases without renal involvement, 2 had mutations in the tail domain of NMMHC-IIA and 1 had a mutation in the motor domain. The remaining 3 sporadic cases had severe renal involvement with rapid progression to end-stage renal disease and mutations located in the motor domain. In summary, mutations in the motor domain of NMMHC-IIA and negative family history were associated with severe renal involvement in patients with MYH9-related disorders. These results are in agreement with those of previous reports.
authors.affiliation: Department of Pediatrics, Seoul National University Children's Hospital, 101 Daehang-no, Jongno-Gu, Seoul, 110-744, South Korea.
authors.forename: Kyoung Hee
authors.initials: KH
authors.lastname: Han
authors.forename: HyunKyung
authors.initials: H
authors.lastname: Lee
authors.forename: Hee Gyung
authors.initials: HG
authors.lastname: Kang
authors.forename: Kyung Chul
authors.initials: KC
authors.lastname: Moon
authors.forename: Joo Hoon
authors.initials: JH
authors.lastname: Lee
authors.forename: Young Seo
authors.initials: YS
authors.lastname: Park
authors.forename: Il Soo
authors.initials: IS
authors.lastname: Ha
authors.forename: Hyo Seop
authors.initials: HS
authors.lastname: Ahn
authors.forename: Yong
authors.initials: Y
authors.lastname: Choi
authors.forename: Hae Il
authors.initials: HI
authors.lastname: Cheong
mesh_terms: D000293:Adolescent; D000328:Adult; D002544:Cerebral Infarction / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D002648:Child; D002675:Child, Preschool; D004252:DNA Mutational Analysis; D005260:Female; D005838:Genotype; D006319:Hearing Loss, Sensorineural / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D006801:Humans; D007223:Infant; D007674:Kidney Diseases / Q000235:genetics* / Q000473:pathology* / Q000503:physiopathology; D008297:Male; D020409:Molecular Motor Proteins / Q000235:genetics*; D009154:Mutation; D018995:Myosin Heavy Chains / Q000235:genetics*; D009394:Nephritis, Hereditary / Q000235:genetics / Q000473:pathology / Q000503:physiopathology; D010641:Phenotype; D013921:Thrombocytopenia / Q000235:genetics / Q000473:pathology / Q000503:physiopathology / Q000151:congenital
chemical_list: C103814:MYH9 protein, human; D020409:Molecular Motor Proteins; D018995:Myosin Heavy Chains