A clinical and genetic study of 16 Japanese families with Waardenburg syndrome
| Autor: | Tetsuya Takiguchi, Noriko Morimoto, Shujiro Minami, Hirokazu Sakamoto, Kiyomitsu Nara, Hideki Mutai, Kimitaka Kaga, Tatsuo Matsunaga |
|---|---|
| Rok vydání: | 2019 |
| Předmět: |
Adult
Male 0301 basic medicine Pediatrics medicine.medical_specialty Hearing loss DNA Mutational Analysis SOX10 PAX3 Biology medicine.disease_cause 03 medical and health sciences 0302 clinical medicine Asian People Gene Frequency Japan Genetics medicine Humans Congenital sensorineural hearing loss Family Genetic Predisposition to Disease Waardenburg Syndrome Genetic Testing Child Frameshift Mutation PAX3 Transcription Factor Genetic Association Studies Microphthalmia-Associated Transcription Factor Mutation SOXE Transcription Factors Waardenburg syndrome General Medicine Japanese population medicine.disease Receptor Endothelin B Pedigree 030104 developmental biology Codon Nonsense 030220 oncology & carcinogenesis Female medicine.symptom Dystopia canthorum |
| Zdroj: | Gene. 704:86-90 |
| ISSN: | 0378-1119 |
| Popis: | The purpose of this study is to profile the clinical and genetic features of Japanese Waardenburg syndrome (WS) patients and validate the W index. Sixteen Japanese WS families with congenital sensorineural hearing loss were included in the study. The inner canthal, interpupillary, and outer canthal distances (ICD, IPD, and OCD) were measured for all patients, and patients were screened for presence of PAX3, MITF, SOX10, and EDNRB mutations. The WS patients were clinically classified under the current W index as follows: 13 families with WS1, 2 families with WS2, and 1 family with WS4. In the 13 WS1 families, genetic tests found PAX3 mutations in 5 families, MITF mutations in 4 families, SOX10 mutations in 3 families, and EDNRB mutations in 1 family. 61% of clinically classified WS1 patients under the current W index conflicted with the genetic classification, which implies W index is not appropriate for Japanese population. Resetting the threshold of W index or novel index formulated with ethnicity matched samples is necessary for clinical classification which is consistent with genetic classification for WS patients with distinct ethnicity. |
| Databáze: | OpenAIRE |
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