Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets

Hereditary vitamin D-resistant rickets （HVDRR） is a rare autosomal recessive disorder characterized by severe rickets, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. This disorder is caused by homogeneous or heterogeneous mutations affecting the function of the vitamin D receptor （VDR）, which lead to complete or partial target organ resistance to the action of 1,25- dihydroxy vitamin D~ A non-consanguineous family of Chinese Han origin with one affected individual demonstrating HVDRR was recruited, with the proband evaluated clinically, biochemically and radiographically. To identify the presence of mutations in the VDR gene, all the exons and exon-intron junctions of the VDR gene from all family members were amplified using PCR and sequenced. The proband showed rickets, progressive alopecia, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. She also suffered from epilepsy, which is rarely seen in patients with HVDRR. Direct sequencing analysis revealed a homozygous missense mutation c.122G 〉 A （p.C41Y） in the VDR gene of the proband, which is located in the first zinc finger of the DNA-binding domain. Both parents had a normal phenotype and were found to be heterozygous for this mutation. We report a Chinese Han family with one individual affected with HVDRR. A homozygous missense mutation c.122G 〉 A （p.C41Y） in the VDR gene was found to be responsible for the patient＇s syndrome. In contrast to the results of treatment of HVDRR in other patients, our patient responded well to a supplement of oral calcium and a low dose of calcitriol.

Blood is not always thicker than water:The limited effect of kin selection on human kinship in the traditional Chinese family

To examine the importance of kin selection in shaping human societies, this study analyzed the kinship system practiced in traditional China for two millennia and teased apart its underlying genetic and other, presumably cultural, components. The results demonstrate that, in the traditional patrilineal Chinese family, both genetic relatedness and the cultural factor of generation were important in determining kinship status for male agnates （genetically related relatives）. For female agnates, however, only genetic relatedness was important. Another surprising finding was that the influence of gender was not as important as genetic relatedness. The most interesting finding in this study, however, was that kin selection and culture （i.e., seniority in generation and age） played vastly different roles in different lineages in the Chinese family： for collateral （indirect） agnates, genetic relatedness was the most important factor in determining their kinship status, but for lineal （direct） agnates, its importance was overridden by seniority in generation and age, a cultural factor. Several other bio-cultural factors also explained a considerable amount of variance in kinship status. Since kinship profoundly affected, and was often the foundation of, the legal and social systems in dynastic China, kin selection, while its strength may differ remarkably between lineal and collateral relatives, could act as a selective force in Chinese families

Digenic heterozygous mutations in EYS/LRP5 in a Chinese family with retinitis pigmentosa

Dear Editor,I am Dr.Ji-Hong Wu,from the Department of Ophthalmology,Eye＆ENT Hospital of Fudan University,China.I write to present a case report of retinitis pigmentosa（RP）caused by novel digenic heterozygous mutations in a Chinese family.

Tsering Yudron and Her Han Chinese Family

Tsering Yudron is a lo-cal Tibetan girl.However,she has a Chinese mother with four sisters and a brother in Beijing.

The Application of Newmark’s Metaphor Theory in Novel Translation--A Case Study of“the Jade King:History of a Chinese Muslim Family”

This paper examines the metaphorical part of“The Jade King:History of a Chinese Muslim Family”,Hoda’s novel,under the guidance of Newmark’s theory of metaphor.Newmark proposes six categories of metaphors,namely Dead Metaphor,ClichéMetaphor,Stock or Standard Metaphor,Adapted Metaphor,Recent Metaphor,Original Metaphor;and seven strategies of metaphor translation,including reproducing the same image in the target language,replacing the image in the source language with a standard target language image,translation of metaphor by simile,translation of metaphor(or simile)by simile plus sense,conversion of metaphor to sense,deletion and same metaphor combined with sense.They can provide a strong theoretical support for analyzing the expressions of metaphors in novels and their translation methods.By deeply analyzing the expressions of metaphor and its translation methods in novels,it not only helps to understand the metaphorical meaning and cultural connotation of the original works,but also helps to explore the cultural differences and challenges faced by English and Chinese bilingualism in the process of metaphor translation,thereby significantly improving the translation level and promoting the development of translation research.

Mitochondrial tRNA^(Glu) A14693G variant may modulate the phenotypic manifestation of deafness-associated 12S rRNA A1555G mutation in a Han Chinese family

Mutations in mitochondrial 12S rRNA gene are one of the most important causes of aminoglycoside-induced and nonsyndromic hearing loss. Here we report the characterization of one Han Chinese pedigree with aminoglycoside-induced and nonsyndromic hearing loss. This Chinese family carrying the 12S rRNA A1555G mutation exhibited high penetrance and expressivity of heating impairment. In particular, penetrances of hearing loss in this family pedigree were 43.8% and 25%, respectively, when aminoglycoside-induced heating loss was included or excluded. Mutational analysis of entire mitochondrial genomes in this family showed the homoplasmic A1555G mutation and a set of variants belonging to haplogroup Y2. Of these, the A14693G variant occurred at the extremely conserved nucleotide （conventional position 54） of the TψC-loop of tRNA^Clu and was absent in 156 Chinese controls. Nucleotides at position 54 of tRNAs are often modified, thereby contributing to the structural formation and stabilization of functional tRNAs. Thus, the structural alteration of tRNA by the A14693G variant may lead to a failure in tRNA metabolism and impair mitochondrial protein synthesis, thereby worsening mitochondrial dysfunctions altered by the A1555G mutation. Therefore, the tRNA^Glu A14693G variant may have a potential modifier role in increasing the penetrance and expressivity of the deafness-associated A1555G mutation in this Chinese pedigree.

Features of a Chinese family with cerebral cavernous malformation induced by a novel CCM1 gene mutation

Background Familial cerebral cavernous malformations （CCMs）, characterized by hemorrhagic stroke, recurrent headache and epilepsy, are congenital vascular anomalies of the central nervous system. Familial CCMs is an autosomal dominant inherited disorder and three CCM genes have been identified. We report a Chinese family with CCMs and intend to explore clinical, pathological, magnetic resonance imaging （MRI） features and pathogenic gene mutation of this family. Methods Totally 25 family members underwent brain MRI examination and clinical check. Two patients with surgical indications had surgical treatment and the specimens were subjected to histopathological and microstructural examination. In addition, polymerase chain reaction （PCR） and direct sequencing were performed with genomic DNA extracted from 25 family members＇ blood samples for mutation detection. Results Brain MRI identified abnormal results in seven family members. All of them had multiple intracranial lesions and four cases had skin cavernous hemangioma. T2-weighted sequence showed that the lesions were typically characterized by an area of mixed signal intensity. Gradient-echo （GRE） sequence was more sensitive to find micro- cavernous hemangiomas. There was a wide range in the clinical manifestations as well as the age of onset in the family. The youngest patient was an 8-year-old boy with least intracranial lesions. Histopathological and microstructural examination showed that CCMs were typically discrete multi-sublobes of berry-like lesions, with hemorrhage in various stages of illness evolution. They were formed by abnormally enlarged sinusoids and the thin basement membranes. A novel T deletion mutation in exon 14 of CCM1 gene was identified by mutation detection in the seven patients. But unaffected members and healthy controls did not carry this mutation. Conclusions The clinical manifestations were heterogenic within this family. We identified a novel mutation （c.1396delT） was the disease-causing mutation for this family and extended the mutational spectrum of CCMs.

A new mutation of PTCH gene in a Chinese family with nevoid basal cell carcinoma syndrome

Background Nevoid basal cell carcinoma syndrome （NBCCS） is a rare autosomal dominant disease characterized by a combination of development anomalies and a predisposition to tumour formation. Mutation of patched gene （PTCH）, considered the molecular defect of NBCCS, in a Chinese NBCCS family was investigated in this study. Methods Genomic DNA was isolated from blood samples of all 12 members of this family. The mutated PTCH gene was screened by polymerase chain reaction amplification and direct sequencing. Results A new mutation of 3 bp （GAT deletion） was found in all seven affected members of this family. This mutation caused one aspartate deletion in the fourth transmembrane domain of the PTCH protein located within the sterol sensing domain （SSD）. This deletion was not found in any unaffected members of this family nor in 200 control samples.Conclusions Our findings suggest that one 3-bp deletion in PTCH gene was the cause of nevoid basal cell carcinoma in a Chinese family through affecting the conformation and function of PTCH protein.

Chinese Family Patterns Undergo Changes

IN China, family patterns change as children get married, have children and the family line continues. Aunt Cheng is a retired teacher. After her husband died, Aunt Cheng continued to live with her unmarried younger son. She got on well with neighbors in the building, who would often see her out walking with her son. One day, she began to furnish their apartment. Her neighbors assumed her

Chinese Family Culture in the Ascendant

IN the mid 1980s, Chinese family culture started in Shanghai. Now, more than ten years later, it has spread to cities and the countryside all over China The rise of Chinese family culture cannot be separated from the improved economic development. Reform and opening to the outside world greatly increased the living standard of Chinese families. Many people are in pursuit

Family Cars for the Chinese

Family cars is an important topic today. Nowadays car shows are particularly welcome in some big cities, and the media have done their best to drum the idea of family cars into the peoples minds. The ’94 international car exhibition held in Beijing last November highlighted the family car craze. In modern times, cars have

Family as the Cornerstone of Chinese Society

Traditional Chinese society was an agricultural society, and family was the most important social unit with regards to production and consumption. Family is the mainstay of Chinese culture, with traditional Chinese humanism culture and a major part of the Chinese culture originating from the concept of family.

Research on the Current Status, Paths and Countermeasures of Family Farm Development in China——Investigation and Analysis of Hubei Province

The Chinese family farm is the most important new micro subject in the construction and development of modern agriculture in China. The investigation and analysis of the actual situation of Hubei Province showed that since the implementation of the household contract management system in rural areas, the family farm has followed the track of gradual development, breakthrough development and normal standardization development. In order to promote the family farm to develop rapidly, orderly and healthily, work must be well done to land circulation, scale management, financial support, financial subsidy, cultivation of leading talents and professional farmers, and providing all-round services.

Associations between parental support for physical activity and moderate-to-vigorous physical activity among Chinese school children： A cross-sectional study

Purpose: The objective of this study was to examine the associations between parental support for physical activity(PA) and levels of moderate-to-vigorous physical activity(MVPA) among Chinese school children.Methods: Study participants were 81,857 school-aged children(aged 9–17 years; mean age = 13 years; 49.0% boys) and their parents or guardians who took part in the 2016 Physical Activity and Fitness in China—The Youth Study project. The independent variables included various forms of parental support for PA ascertained through a survey completed by parents or guardians. The dependent variable was the children's average MVPA in minutes per day by self-report. Structure equation modeling was used to examine the associations between parental support for PA and children's MVPA minutes.Results: The overall mean for MVPA participation time for the child participants was 48.82 ± 28.71 min/day. Significant associations between various forms of parental support and MVPA among children were found. Parental encouragement, accompanying, financial support, involvement,and role modeling for PA were positively associated with a high level of student MVPA participation. Parental PA knowledge-sharing was not associated with MVPA. The patterns of the associations were similar across sex, residence locale(i.e., urban and rural), and school grades(primary,junior middle, and junior high schools).Conclusion: Findings from this study suggest that, among Chinese school children, parental support for PA is important in promoting and facilitating children's participation in MVPA.

Chinese Families of the 21st Century

Family stability and harmony is of great significance to smooth so~-cial development.More and more insightful people are calling for a new set of family morals to counter-act bad social tendencies and foster a more morally conscious generation of Chinese for the future.China,a huge nation with many billiant cul-tural traditions,is responding to the appeals of the United Nations and doing its best to contribute to the happiness of the human race.