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author:("Abe, satoimo")
1.  OTOF mutation screening in Japanese severe to profound recessive hearing loss patients 
BMC Medical Genetics  2013;14:95.
Auditory neuropathy spectrum disorder (ANSD) is a unique form of hearing loss that involves absence or severe abnormality of auditory brainstem response (ABR), but also the presence of otoacoustic emissions (OAEs). However, with age, the OAEs disappear, making it difficult to distinguish this condition from other nonsyndromic hearing loss. Therefore, the frequency of ANSD may be underestimated. The aim of this study was to determine what portion of nonsyndromic hearing loss is caused by mutations of OTOF, the major responsible gene for nonsyndromic ANSD.
We screened 160 unrelated Japanese with severe to profound recessive nonsyndromic hearing loss (ARNSHL) without GJB2 or SLC26A4 mutations, and 192 controls with normal hearing.
We identified five pathogenic OTOF mutations (p.D398E, p.Y474X, p.N727S, p.R1856Q and p.R1939Q) and six novel, possibly pathogenic variants (p.D450E, p.W717X, p.S1368X, p.R1583H, p.V1778I, and p.E1803A).
The present study showed that OTOF mutations accounted for 3.2–7.3% of severe to profound ARNSHL patients in Japan. OTOF mutations are thus a frequent cause in the Japanese deafness population and mutation screening should be considered regardless of the presence/absence of OAEs.
PMCID: PMC3849620  PMID: 24053799
Auditory neuropathy spectrum disorder; DFNB9; Nonsyndromic hearing loss
2.  Comprehensive Genetic Screening of KCNQ4 in a Large Autosomal Dominant Nonsyndromic Hearing Loss Cohort: Genotype-Phenotype Correlations and a Founder Mutation 
PLoS ONE  2013;8(5):e63231.
The present study of KCNQ4 mutations was carried out to 1) determine the prevalence by unbiased population-based genetic screening, 2) clarify the mutation spectrum and genotype/phenotype correlations, and 3) summarize clinical characteristics. In addition, a review of the reported mutations was performed for better understanding of this deafness gene. The screening using 287 probands from unbiased Japanese autosomal dominant nonsyndromic hearing loss (ADNSHL) families identified 19 families with 7 different disease causing mutations, indicating that the frequency is 6.62% (19/287). While the majority were private mutations, one particular recurrent mutation, c.211delC, was observed in 13 unrelated families. Haplotype analysis in the vicinity of c.211delC suggests existence of a common ancestor. The majority of the patients showed all frequency, but high-frequency predominant, sensorineural hearing loss. The present study adds a new typical audiogram configuration characterized by mid-frequency predominant hearing loss caused by the p.V230E mutation. A variant at the N-terminal site (c. 211delC) showed typical ski-slope type audiogram configuration. Concerning clinical features, onset age was from 3 to 40 years old, and mostly in the teens, and hearing loss was gradually progressive. Progressive nature is a common feature of patients with KCNQ4 mutations regardless of the mutation type. In conclusion, KCNQ4 mutations are frequent among ADNSHL patients, and therefore screening of the gene and molecular confirmation of these mutations have become important in the diagnosis of these conditions.
PMCID: PMC3662675  PMID: 23717403
3.  Parotid Gland Metastasis of Breast Cancer: Case Report and Review of the Literature 
Breast Care  2011;6(6):471-473.
Parotid gland metastasis in breast cancer is extremely rare, and only 14 cases have been reported between 1982 and 2010.
Case Report
A 67-year-old female patient was diagnosed with invasive lobular carcinoma of the left breast. Although clinical staging was T1N3M1 (stage IV), the tumor experienced a complete response to chemotherapy. We therefore performed a mastectomy followed by radiotherapy, and continued administration of trastuzumab. However, 11 months later, the patient complained of a swelling in the left parotid gland. Histology following a partial parotidectomy revealed a parotid gland metastasis from the breast.
Treatment with capecitabine in addition to trastuzumab, which is one of the strategies applied in HER2-positive breast cancer, was effective in our patient. Analysis of the 14 cases of parotid gland metastasis from the breast reported between 1982 and 2010 revealed that the metastasis may occur not by direct lymphatic but by hematogenous spread.
PMCID: PMC3290006  PMID: 22419903
Parotid gland metastasis; Breast cancer; Trastuzumab
4.  Simultaneous Screening of Multiple Mutations by Invader Assay Improves Molecular Diagnosis of Hereditary Hearing Loss: A Multicenter Study 
PLoS ONE  2012;7(2):e31276.
Although etiological studies have shown genetic disorders to be a common cause of congenital/early-onset sensorineural hearing loss, there have been no detailed multicenter studies based on genetic testing. In the present report, 264 Japanese patients with bilateral sensorineural hearing loss from 33 ENT departments nationwide participated. For these patients, we first applied the Invader assay for screening 47 known mutations of 13 known deafness genes, followed by direct sequencing as necessary. A total of 78 (29.5%) subjects had at least one deafness gene mutation. Mutations were more frequently found in the patients with congenital or early-onset hearing loss, i.e., in those with an awareness age of 0–6 years, mutations were significantly higher (41.8%) than in patients with an older age of awareness (16.0%). Among the 13 genes, mutations in GJB2 and SLC26A4 were mainly found in congenital or early-onset patients, in contrast with mitochondrial mutations (12S rRNA m.1555A>G, tRNA(Leu(UUR)) m.3243A>G), which were predominantly found in older-onset patients. The present method of simultaneous screening of multiple deafness mutations by Invader assay followed by direct sequencing will enable us to detect deafness mutations in an efficient and practical manner for clinical use.
PMCID: PMC3286470  PMID: 22384008
5.  Early Results of an Endoscopic Nipple-Sparing Mastectomy for Breast Cancer 
Endoscopic mastectomy has been reportedly associated with smaller scars and greater patient satisfaction; however, few reports on this topic have been made. The purpose of this retrospective study was to examine the early results of endoscopic nipple-sparing mastectomy (ENSM) and to investigate the safety of this procedure.
Between January 2002 and December 2005, a total of 87 patients with breast cancer but without skin and nipple involvement, including two cases of bilateral breast cancer, underwent E-NSM. In case of bloody nipple discharge and suspicious extension near the nipple as assessed by magnetic resonance imaging, the major ducts within the nipple were cored (nipple coring). In other cases, nipple coring was not performed.
Of the 89 breasts in 87 patients, 42 had tumors of >2 cm and 80 were diagnosed as having invasive carcinoma. Lymph node involvement was observed in 36 procedures. The overall rate of nipple necrosis was 18% (16 of 89). The rate of nipple necrosis among the procedures with nipple coring was statistically higher than that among those without nipple coring (7 of 17, 41%, vs. 9 of 72, 13%) (P = .01). Nipple involvement was observed in 2.2% (2 of 89). After a median follow-up period of 52 months, distant metastasis was observed in nine cases; no local recurrences occurred in this series.
E-NSM is an oncologically safe procedure and an acceptable method in selected patients requiring a mastectomy. The higher rate of nipple necrosis may have been the result of a technical problem, indicating the need for continued improvement in nipple coring procedures.
PMCID: PMC3372951  PMID: 22695768

Results 1-5 (5)