scholarly journals DFNA5 (GSDME) c.991-15_991-13delTTC: Founder Mutation or Mutational Hotspot?

2020 ◽  
Vol 21 (11) ◽  
pp. 3951 ◽  
Author(s):  
Kevin T. Booth ◽  
Hela Azaiez ◽  
Richard J. H. Smith
Keyword(s):  
Hearing Loss ◽  
Founder Mutation ◽  
East Asian ◽  
Large Family ◽  
Asian Population ◽  
European Ancestry ◽  
Unique Haplotype ◽  
Variant Filtering ◽  
Base Pair Deletion ◽  
The Family

Deafness due to mutations in the DFNA5 gene is caused by the aberrant splicing of exon 8, which results in a constitutively active truncated protein. In a large family of European descent (MORL-ADF1) segregating autosomal dominant nonsyndromic hearing loss, we used the OtoSCOPE platform to identify the genetic cause of deafness. After variant filtering and prioritization, the only remaining variant that segregated with the hearing loss in the family was the previously described c.991-15_991-13delTTC mutation in DFNA5. This 3-base pair deletion in the polypyrimidine of intron 7 is a founder mutation in the East Asian population. Using ethnicity-informative markers and haplotype reconstruction within the DFNA5 gene, we confirmed family MORL-ADF1 is of European ancestry, and that the c.991-15_991-13delTTC mutation arose on a unique haplotype, as compared to that of East Asian families segregating this mutation. In-depth audiometric analysis showed no statistical difference between the audiometric profile of family MORL-ADF1 and the East Asian families. Our data suggest the polypyrimidine tract in intron 7 may be a hotspot for mutations.

Polygenic Inheritance of Otosclerosis

1976 ◽  
Vol 85 (2) ◽  
pp. 281-285 ◽  
Author(s):  
Judith C. Mendlowitz ◽  
Kurt Hirschhorn
Keyword(s):  
Hearing Loss ◽  
General Population ◽  
Mathematical Analysis ◽  
Conductive Hearing Loss ◽  
Extended Family ◽  
Large Family ◽  
Polygenic Inheritance ◽  
Increased Risk ◽  
The Family ◽  
Conductive Hearing

A large family has been studied and its pedigree traced for six generations. Fifteen relatives are known to have had otosclerosis. Of these, the only six individuals who developed this disease before the age of twenty were offspring of second-cousin marriages. Other children in the extended family developed the disease later and may have had somewhat less severe symptoms. The original hypothesis that the severe, early onset cases occurred among those homozygous for a monogenic trait became improbable on mathematical analysis. We conclude that the inheritance of otosclerosis in this family is polygenic and probably multifactorial. Individuals marrying within the family have a greatly increased risk of giving birth to children who will develop otosclerosis early, and perhaps severely. Those who marry outside the family have a greatly decreased risk. They do, of course, have a higher risk than the general population of having children who will at some point experience a conductive hearing loss.

scholarly journals Are Family Firms More Levered? An Analysis of Family and Non-Family Firms

SAGE Open ◽  
2021 ◽  
Vol 11 (2) ◽  
pp. 215824402110223
Author(s):  
Jahanzaib Haider ◽  
Abdul Qayyum ◽  
Zalina Zainudin
Keyword(s):  
Family Firms ◽  
East Asian ◽  
Ordinary Least Squares ◽  
Maturity Structure ◽  
The Family ◽  
Asian Economies ◽  
The Board Of Directors ◽  
East Asian Economies ◽  
Combined Data

This study analyzes the leverage policies of the family and non-family firms of eight East Asian Economies (Hong Kong, Indonesia, Japan, Korea, Malaysia, Philippines, Singapore, and Taiwan) by using combined data of 690 family and non-family firms with 3,224 firm–years over the period 2006–2010. This study has used an ordinary least squares (OLS) regression for analyzing the data for the first question, while for the second question, logit regression has been used as the dependent variable (a binary variable). Prior research on family and non-family firms has revealed that family firms issue less (high) debt than non-family firms. Our analysis on a sample of East Asian Economies discloses that family firms have significantly different leverage levels than non-family firms, but their signs are not consistent. On the contrary, when the owner works as CEO/Chairman or member of the Board of Directors, then the family firms issue less debt than the non-family firms. Besides that, this study adds a new question that has not been addressed in the prior studies. The new question has focused on the speed of leverage adjustment. It is found that family firms and non-family firms regarding their debt maturity structure (short-term debt and long-term debt), the speed of leverage adjustments, and their decision to issue securities (i.e., debt vs. equity) are not significantly different. This study concluded that though family firms have a strong influence on each economy, but in South-East Asian countries, leverage policies of the family firms are not much different than that of non-family firms.

Intronic LINE-1 insertion in SLCO1B3 as a highly prevalent cause of rotor syndrome in East Asian population

2021 ◽  
Author(s):  
Young-gon Kim ◽  
Hobin Sung ◽  
Ho Seob Shin ◽  
Man Jin Kim ◽  
Jee-Soo Lee ◽  
...  
Keyword(s):  
East Asian ◽  
Asian Population ◽  
East Asian Population ◽  
Rotor Syndrome

Loudness Growth under Masking: Relation to True Sensorineural Impairment

1973 ◽  
Vol 16 (4) ◽  
pp. 597-607 ◽  
Author(s):  
Alan M. Richards
Keyword(s):  
Hearing Loss ◽  
Power Function ◽  
Threshold Shift ◽  
Essential Difference ◽  
Frequency Dependent ◽  
Masker Level ◽  
Loudness Recruitment ◽  
The Family ◽  
Balance Functions ◽  
Loudness Growth

Alternate binaural loudness balances between masked and unmasked normal ears were performed to examine the growth of loudness as a function of masker level at each of several frequencies (500, 1000, 2000, and 4000 Hz) and to determine whether the recruitmentlike phenomenon in masked ears is comparable in its growth and form to actual recruitment growth in sensorineural impaired ears. The results for 28 subjects indicated that for all frequencies a power function relating the perceived loudness in the masked ear to the unmasked ear could be drawn, and that the slope of this function rose as a function of increased masking. The family of slopes for each frequency was linearly related to the induced threshold shift. The slope of this latter relation proved to be frequency dependent. Comparison between the slope growth in simulated hearing loss and the family of loudness-balance slopes obtained from patients with true unilateral loss of varying degree indicated that the slopes of loudness-balance functions in the latter group also increased linearly with increased loss. In this latter instance, however, the slope growth was not frequency dependent, thus pointing to an essential difference between simulated and actual loudness recruitment growth.

MODEST OVERWEIGHT AND HEALTHY DIETARY HABITS REDUCE RISK OF DEMENTIA: A NATIONWIDE SURVEY IN TAIWAN

2016 ◽  
pp. 1-8
Author(s):  
C.-Y. Lee ◽  
Y. Sun ◽  
H.-J. Lee ◽  
T.-F. Chen ◽  
P.-N. Wang ◽  
...  
Keyword(s):  
Body Mass Index ◽  
Body Mass ◽  
Dietary Habits ◽  
Demographic Data ◽  
Sugar Content ◽  
East Asian ◽  
Asian Population ◽  
Nationwide Survey ◽  
Normal Subjects ◽  
Cross Sectional

Background: Evidence of the associations of dietary habits and body mass index with dementia is inconsistent and limited in East Asian countries. Objective: We aim to explore the associations of dietary habits and body mass index with the odds of dementia. Design: Cross-sectional observational study. Setting: A nationwide, population-based, door-to-door, in-person survey. Participants: Selected by computerized random sampling from all 19 counties in Taiwan. Measurement: Diagnosis of dementia using the criteria recommended by the National Institute on Aging-Alzheimer’s Association. Lifestyle factors, dietary habits and demographic data were compared between normal subjects and participants with dementia. Results: A total of 10432 residents were assessed, among whom 2049 were classified as having a mild cognitive impairment (MCI), 929 were diagnosed with dementia, and 7035 were without dementia or MCI. After adjustment for age, gender, education, body mass index (BMI), dietary habits, habitual exercises and co-morbidities, including hypertension, diabetes and cerebrovascular diseases, we found inverse associations of dementia with the consumption of fish (OR 0.62, 95% CI 0.41-0.94), vegetables (OR 0.35, 95% CI 0.13-0.95), coffee (OR 0.59, 95% CI 0.35-0.97), green tea (OR 0.51, 95% CI 0.34-0.75) and other types of tea (OR 0.41, 95% CI 0.28-0.60). There was no association between dementia and fruit consumption. Compared with people who had a normal BMI (18 < BMI <= 24), older overweight people (24 < BMI <=30) had a reduced risk of dementia with an adjusted OR of 0.77 (95% CI 0.61-0.96). Conclusions: Our study provides preliminary evidence that suggests that the consumption of fish, vegetables, tea, and coffee has potential benefits against dementia in East Asian population. Being modestly overweight (nadir risk at BMI = 25) in late life was associated with decreased odds of dementia. The benefit of fruits may be offset by their high sugar content.

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