scholarly journals Familial Temperature-Sensitive Auditory Neuropathy: Distinctive Clinical Courses Caused by Variants of the OTOF Gene

2021 ◽  
Vol 9 ◽  
Author(s):  
Yi-Ming Zhu ◽  
Qi Li ◽  
Xue Gao ◽  
Yan-Fei Li ◽  
You-Li Liu ◽  
...  
Keyword(s):  
Body Temperature ◽  
Auditory Neuropathy ◽  
Auditory Brainstem Responses ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Temperature Sensitive ◽  
Recessive Trait ◽  
Main Function ◽  
Genetic Etiology ◽  
C2 Domains

Objective: To investigate the clinical course and genetic etiology of familial temperature-sensitive auditory neuropathy (TSAN), which is a very rare subtype of auditory neuropathy (AN) that involves an elevation of hearing thresholds due to an increase in the core body temperature, and to evaluate the genotype–phenotype correlations in a family with TSAN.Methods: Six members of a non-consanguineous Chinese family, including four siblings complaining of communication difficulties when febrile, were enrolled in this study. The clinical and audiological profiles of the four siblings were fully evaluated during both febrile and afebrile episodes, and the genetic etiology of hearing loss (HL) was explored using next-generation sequencing (NGS) technology. Their parents, who had no complaints of fluctuating HL due to body temperature variation, were enrolled for the genetics portion only.Results: Audiological tests during the patients’ febrile episodes met the classical diagnostic criteria for AN, including mild HL, poor speech discrimination, preserved cochlear microphonics (CMs), and absent auditory brainstem responses (ABRs). Importantly, unlike the pattern observed in previously reported cases of TSAN, the ABRs and electrocochleography (ECochG) signals of our patients improved to normal during afebrile periods. Genetic analysis identified a compound heterozygous variant of the OTOF gene (which encodes the otoferlin protein), including one previously reported pathogenic variant, c.5098G > C (p.Glu1700Gln), and one novel variant, c.4882C > A (p.Pro1628Thr). Neither of the identified variants affected the C2 domains related to the main function of otoferlin. Both variants faithfully cosegregated with TSAN within the pedigree, suggesting that OTOF is the causative gene of the autosomal recessive trait segregation in this family.Conclusion: The presence of CMs with absent (or markedly abnormal) ABRs is a reliable criterion for diagnosing AN. The severity of the phenotype caused by dysfunctional neurotransmitter release in TSAN may reflect variants that alter the C2 domains of otoferlin. The observations from this study enrich the current understanding of the phenotype and genotype of TSAN and may lay a foundation for further research on its pathogenesis.

The Validity of Temperature-Sensitive Ingestible Capsules for Measuring Core Body Temperature in Laboratory Protocols

2011 ◽  
Vol 28 (8) ◽  
pp. 719-726 ◽  
Author(s):  
David Darwent ◽  
Xuan Zhou ◽  
Cameron van den Heuvel ◽  
Charli Sargent ◽  
Greg D. Roach
Keyword(s):  
Body Temperature ◽  
Core Body Temperature ◽  
Temperature Sensitive ◽  
Core Body

What's hot and what's not: defining torpor in free-ranging birds and mammals

2001 ◽  
Vol 79 (10) ◽  
pp. 1885-1890 ◽  
Author(s):  
Robert MR Barclay ◽  
Cori L Lausen ◽  
Lydia Hollis
Keyword(s):  
Body Temperature ◽  
The Body ◽  
Temperature Sensitive ◽  
The Past ◽  
Data Loggers ◽  
Temperature Thresholds ◽  
Radio Transmitters ◽  
Species Specific ◽  
Free Ranging ◽  
Lowered Body

With the development of small implantable data loggers and externally attached temperature-sensitive radio transmitters, increasing attention is being paid to determining the thermoregulatory strategies of free-ranging birds and mammals. One of the constraints of such studies is that without a direct measure of metabolic rate, it is difficult to determine the significance of lowered body temperatures. We surveyed the literature and found that many different definitions have been used to discriminate torpor from normothermy. Many studies use arbitrary temperature thresholds without regard for the normothermic body temperature of the individuals or species involved. This variation makes comparison among studies difficult and means that ecologically and energetically significant small reductions in body temperature may be overlooked. We suggest that normothermic body temperature for each individual animal should be determined and that torpor be defined as occurring when the body temperature drops below that level. When individuals' active temperatures are not available, a species-specific value should be used. Of greater value, however, are the depth and duration of torpor bouts. We suggest several advantages of this definition over those used in the past.

Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review

Dermatology ◽  
2013 ◽  
Vol 226 (1) ◽  
pp. 68-74 ◽  
Author(s):  
Shuang Wang ◽  
Chen Tu ◽  
Yiguo Feng ◽  
Xiaopeng Wang ◽  
Dingwei Zhang ◽  
...  
Keyword(s):  
Literature Review ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Compound Heterozygous Mutations

scholarly journals Identification of Two Novel Compound Heterozygous PTPRQ Mutations Associated with Autosomal Recessive Hearing Loss in a Chinese Family

PLoS ONE ◽  
2015 ◽  
Vol 10 (4) ◽  
pp. e0124757 ◽  
Author(s):  
Xue Gao ◽  
Yu Su ◽  
Yu-Lan Chen ◽  
Ming-Yu Han ◽  
Yong-Yi Yuan ◽  
...  
Keyword(s):  
Hearing Loss ◽  
Autosomal Recessive ◽  
Chinese Family ◽  
Compound Heterozygous

scholarly journals Novel compound heterozygous mutations in SLC26A4 gene in a Chinese family with enlarged vestibular aqueduct

2018 ◽  
Vol 12 (5) ◽  
pp. 502-506 ◽  
Author(s):  
Xuelei Zhao ◽  
Xiaohua Cheng ◽  
Lihui Huang ◽  
Xianlei Wang ◽  
Cheng Wen ◽  
...  
Keyword(s):  
Chinese Family ◽  
Compound Heterozygous ◽  
Enlarged Vestibular Aqueduct ◽  
Vestibular Aqueduct ◽  
Compound Heterozygous Mutations ◽  
I Gene

scholarly journals Jervell and Lange-Nielsen Syndrome due to a Novel Compound Heterozygous KCNQ1 Mutation in a Chinese Family

2020 ◽  
Vol 2020 ◽  
pp. 1-8
Author(s):  
Yue Qiu ◽  
Sen Chen ◽  
Xia Wu ◽  
Wen-Juan Zhang ◽  
Wen Xie ◽  
...  
Keyword(s):  
Deaf Child ◽  
Gene Mutations ◽  
Deaf Children ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Qtc Interval ◽  
Cardiac Events ◽  
Life Threatening ◽  
Next Generation Sequencing Ngs ◽  
Generation Sequencing

Jervell and Lange-Nielsen syndrome (JLNS) is a rare but severe autosomal recessive disease characterized by profound congenital deafness and a prolonged QTc interval (greater than 500 milliseconds) in the ECG waveforms. The prevalence of JLNS is about 1/1000000 to 1/200000 around the world. However, exceed 25% of JLNS patients suffered sudden cardiac death with kinds of triggers containing anesthesia. Approximately 90% of JLNS cases are caused by KCNQ1 gene mutations. Here, using next-generation sequencing (NGS), we identified a compound heterozygosity for two mutations c.1741A>T (novel) and c.477+5G>A (known) in KCNQ1 gene as the possible pathogenic cause of JLNS, which suggested a high risk of cardiac events in a deaf child. The hearing of this patient improved significantly with the help of cochlear implantation (CI). But life-threatening arrhythmias occurred with a trigger of anesthesia after the end of the CI surgery. Our findings extend the KCNQ1 gene mutation spectrum and contribute to the management of deaf children diagnosed with JLNS for otolaryngologists (especially cochlear implant teams).

scholarly journals Novel compound heterozygous EYS variants may be associated with arRP in a large Chinese pedigree

2020 ◽  
Vol 40 (6) ◽  
Author(s):  
Chunli Wei ◽  
Ting Xiao ◽  
Jingliang Cheng ◽  
Jiewen Fu ◽  
Qi Zhou ◽  
...  
Keyword(s):  
Novel Mutation ◽  
Gene Mutations ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Missense Mutations ◽  
The Novel ◽  
Pathogenic Variants ◽  
Pathogenic Genes ◽  
Compound Heterozygous Variants ◽  
Normal Controls

Abstract As a genetically heterogeneous ocular dystrophy, gene mutations with autosomal recessive retinitis pigmentosa (arRP) in patients have not been well described. We aimed to detect the disease-causing genes and variants in a Chinese arRP family. In the present study, a large Chinese pedigree consisting of 31 members including a proband and another two patients was recruited; clinical examinations were conducted; next-generation sequencing using a gene panel was used for identifying pathogenic genes, and Sanger sequencing was performed for verification of mutations. Novel compound heterozygous variants c.G2504A (p.C835Y) and c.G6557A (p.G2186E) for the EYS gene were identified, which co-segregated with the clinical RP phenotypes. Sequencing of 100 ethnically matched normal controls didn’t found these mutations in EYS. Therefore, our study identified pathogenic variants in EYS that may cause arRP in this Chinese family. This is the first study to reveal the novel mutation in the EYS gene (c.G2504A, p.C835Y), extending its mutation spectrum. Thus, the EYS c.G2504A (p.C835Y) and c.G6557A (p.G2186E) variants may be the disease-causing missense mutations for RP in this large arRP family. These findings should be helpful for molecular diagnosis, genetic counseling and clinical management of arRP disease.

SONOGRAPHIC MEASUREMENTS OF SCROTAL WALL THICKNESS

2021 ◽  
pp. 31-32
Author(s):  
Sahil Gandhi ◽  
Asit Natekar
Keyword(s):  
Wall Thickness ◽  
Tertiary Care ◽  
The Body ◽  
Wall Thickening ◽  
Temperature Sensitive ◽  
Main Function ◽  
Care Hospital ◽  
Sperm Production ◽  
Time Duration ◽  
Anterior Posterior

Main function of scrotum is to hold testes at optimal temperature for spermatogenesis. Sperm production in the testes is a temperature sensitive process. It requires an environment that is 2 to 6°C cooler than the body core. The temperature of the testes is regulated by the scrotal wall. Tunica dartos muscle changes the surface area of the scrotal skin by contracting or relaxing depending on the ambient temperature. This study postulates that if the thickness or the tone of this muscle is more thereby contributing to scrotal wall thickening, it will hamper the thermoregulation and spermatogenesis leading to poor sperm production. This could be an besides varicocoele another cause of male infertility which has been an established cause. This study will help to suspect the patients of infertility caused by thick scrotal wall. This study is aimed to study scrotal wall thickness and with the help of Ultrasonography. to establish norms The study was conducted at department of Radio-diagnosis at the tertiary care hospital, Sangli. The study started after approval of institutional ethical committee. This is a cross sectional observational study for the duration of 4 months. Total number of 50 cases was achieved in this time duration which satised the inclusion criteria. Statistical method used was Student's T test. Scrotal ultrasonography was performed using linear and curvilinear probe with sta (5-12 MHz) (2-5 MHz) on Philips Afniti50, after ndoff pad allowing some time for the dartos muscle to relax and scrotal wall thickness is measured on either side on three surfaces (anterior, posterior and lateral) and means were obtained. This study found that there was no difference between anterior, posterior, lateral wall thicknesses on ipsilateral side or contralateral side. There is no need to take three different wall thicknesses and convenience and suitability of any scrotal wall thickness would be equally effective.

scholarly journals Case report: two novel VPS13B mutations in a Chinese family with Cohen syndrome and hyperlinear palms

2019 ◽  
Vol 20 (1) ◽  
Author(s):  
Sha Zhao ◽  
Zhenqing Luo ◽  
Zhenghui Xiao ◽  
Liping Li ◽  
Rui Zhao ◽  
...  
Keyword(s):  
Developmental Delay ◽  
Chinese Population ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Case Presentation ◽  
Cohen Syndrome ◽  
The Family ◽  
Sporadic Cases

Abstract Background Cohen syndrome (CS) is an uncommon developmental disease with evident clinical heterogeneity. VPS13B is the only gene responsible for CS. Only few sporadic cases of CS have been reported in China. Case presentation A Chinese family with two offspring–patients affected by developmental delay and intellectual disability was investigated in this study. Exome sequencing was performed, and compound heterozygous mutations in VPS13B were segregated for family members with autosomal recessive disorder. Splicing mutation c.3666 + 1G > T (exon 24) and nonsense mutation c. 9844 A > T:p.K3282X (exon 54) were novel. We revisited the family and learned that both patients are affected by microcephaly, developmental delay, neutropenia, and myopia and have a friendly disposition, all of which are consistent with CS phenotypes. We also found that both patients have hyperlinear palms, which their parents do not have. VPS13B mutations reported among the Chinese population were reviewed accordingly. Conclusions This study presents two novel VPS13B mutations in CS. The identification of hyperlinear palms in a family affected by CS expands the phenotype spectrum of CS.

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