Progressive macrothrombocytopenia and hearing loss in a large family with DIAPH1 related disease.
Akira GanahaTadashi KanameAyano ShinjouYasutsugu ChinenKumiko YanagiTeruyuki HigaShunsuke KondoMikio SuzukiPublished in: American journal of medical genetics. Part A (2017)
In this study, we describe a Japanese family with progressive hearing loss and macrothrombocytopenia. Using next-generation and Sanger sequencing analyses, we identified a heterozygous variant in exon 27 of the DIAPH1 gene (NM_005219), c.3637C>T, p.R1213X. All patients in the family had sensorineural hearing loss and macrothrombocytopenia. None of the patients exhibited a tendency to bleed. No pathogenic variants were found in the MYH9 gene. Hearing loss began with high-frequency loss during early childhood and progressed to severe hearing loss involving all frequencies. Analyses of the mean platelet volume and platelet distribution width indicated that the macrothrombocytopenia is progressive in patients with DIAPH1 related disease.There are no reports describing progressive macrothrombocytopenia in patients with pathogenic variants of DIAPH1. Thus, progressive macrothrombocytopenia may be a novel feature of deafness patients with pathogenic variants in DIAPH1.
Keyphrases
- hearing loss
- multiple sclerosis
- high frequency
- end stage renal disease
- copy number
- newly diagnosed
- ejection fraction
- chronic kidney disease
- peritoneal dialysis
- prognostic factors
- machine learning
- gene expression
- deep learning
- single cell
- photodynamic therapy
- transcription factor
- hypertrophic cardiomyopathy
- drug induced
- electronic health record
- neural network
- high throughput sequencing