Distal arthrogryposis type 5D in a South Indian family caused by novel deletion in ECEL1 gene

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Mamatha Gowda ◽  
Shruthi Mohan ◽  
Devika Ramesh ◽  
Navya Chinta
Keyword(s):  
Distal Arthrogryposis ◽  
Indian Family ◽  
South Indian

Changes in the South Indian Hindu Family Structure in West Malaysia

1982 ◽  
Vol 10 (1) ◽  
pp. 90-97
Author(s):  
K.S. Susan Oorjitham
Keyword(s):  
Working Class ◽  
Family Structure ◽  
Urban Environment ◽  
South India ◽  
Family Values ◽  
Family Structures ◽  
Indian Family ◽  
South Indian ◽  
The Family ◽  
Conducive Environment

AbstractThe largest group of Indians in West Malaysia are the Tamil-speaking Hindus who originate from South India, particularly from Tamilnad. According to S. Arasaratnam, not only are 80% of Indians in Malaysia Tamil speakers but a vast majority of them are also Hindus.1 It is further established that the majority of this group are members of the working class, either in the plantation or in the urban sectors. The family structures of these Tamil working-class families originate basically from the traditional Indian family structure of India. This traditional Indian family structure was maintained in the "conducive" environment of ethnic isolation, found in the plantations. Since my purpose is to study changes in the family structure, Tamil working-class families in an urban environment were selected. It is expected that some changes in family values and structures have occurred among this group of Indians in West Malaysia.

scholarly journals Whole-exome sequencing identifies multiple pathogenic variants in a large South Indian family with primary open-angle glaucoma

2021 ◽  
Vol 69 (9) ◽  
pp. 2461
Author(s):  
Periasamy Sundaresan ◽  
MohdHussain Shah ◽  
Manojkumar Kumaran ◽  
Prakash Chermakani ◽  
MohideenAbdul Kader ◽  
...  
Keyword(s):  
Exome Sequencing ◽  
Whole Exome Sequencing ◽  
Primary Open Angle Glaucoma ◽  
Open Angle Glaucoma ◽  
Open Angle ◽  
Indian Family ◽  
Pathogenic Variants ◽  
South Indian ◽  
Whole Exome

Molecular Genetic Analysis of a Consanguineous South Indian Family with Congenital Glaucoma: Relevance of Genetic Testing and Counseling

2007 ◽  
Vol 28 (1) ◽  
pp. 17-24 ◽  
Author(s):  
Vedam Lakshmi Ramprasad ◽  
Ronnie J. George ◽  
Sarangapani Sripriya ◽  
J. Nirmaladevi ◽  
Lingam Vijaya ◽  
...  
Keyword(s):  
Genetic Testing ◽  
Genetic Analysis ◽  
Molecular Genetic ◽  
Molecular Genetic Analysis ◽  
Congenital Glaucoma ◽  
Indian Family ◽  
South Indian ◽  
Testing And Counseling

scholarly journals India’s Indigenous Lear: Iyobinte Pusthakam

2021 ◽  
pp. 117-129
Author(s):  
Thea Buckley ◽  
Keyword(s):  
King Lear ◽  
Book Of Job ◽  
Tea Plantation ◽  
Indian Family ◽  
Race Politics ◽  
The Brothers Karamazov ◽  
South Indian ◽  
National Division ◽  
Brothers Karamazov ◽  
Malayalam Language

In his 2014 Malayalam-language film Iyobinte Pusthakam (The Book of Job), Amal Neerad combines this Biblical fable with The Brothers Karamazov and King Lear to illustrate generational tensions in a divided South Indian family on a colonial tea plantation. Patriarch Job perpetuates colonial evils, including anti-tribal pogroms and sandalwood smuggling. Here, Job disinherits his youngest son Aloshy (a conflated Edmund+Cordelia figure) upon discovering his Communist sympathies. Through such Shakespearean dilemmas, Neerad’s film raises ethical questions regarding caste, race, politics and environment. Ultimately, familial and societal transgressions reflect pivotal times of national division and transformation, during the era of India’s colonisation, Partition and Independence.

Interview with Sampath Durgadas

2000 ◽  
Vol 13 (4) ◽  
pp. 339-344 ◽  
Author(s):  
Paul I. Karofsky
Keyword(s):  
Family Business ◽  
Family Businesses ◽  
New Delhi ◽  
Family Influences ◽  
Indian States ◽  
Indian Family ◽  
South Indian ◽  
Experiential Research

In November 1998, Paul I. Karofsky visited with several family-owned and -managed businesses in India. The powerful cultural and family influences on family-owned enterprises sparked his desire to interview Sampath Durgadas, a visiting professor and consultant to family businesses at the Institute of Management in Bangalore. Over a 12-year period, Mr. Durgadas conducted extensive experiential research on the nature of transition in three family-owned companies. Although the focus of his work is on the four South Indian states of India, he traveled widely throughout the country. His book, entitled Inheriting the Mantle: Managing Succession in Indian Family Business , is under publication by Sage Publications New Delhi.

scholarly journals A Novel Splice-Site Variation in COL5A1 Causes Keratoconus in an Indian Family

2019 ◽  
Vol 2019 ◽  
pp. 1-5 ◽  
Author(s):  
Qinghong Lin ◽  
Lin Zheng ◽  
Zhengwei Shen ◽  
Liming Jie
Keyword(s):  
Splice Site ◽  
Genomic Dna ◽  
Family Members ◽  
Splice Site Mutation ◽  
Site Mutation ◽  
Acceptor Splice Site ◽  
Blood Leukocytes ◽  
Indian Family ◽  
South Indian ◽  
Gene Functional Analysis

Objective. This study aims to clarify the association between keratoconus (KC) and potential pathogenic genetic variants in a three-generation South Indian family. Methods. In the present study, a three-generation KC family, which comprised 10 affected patients and nine unaffected individuals, was recruited. The family history and necessary ophthalmological exams, such as visual acuity and slit-lamp, were performed for all participants. Genomic DNA was extracted from peripheral blood leukocytes, and whole exome sequencing (WES) was performed using the genomic DNA of the proband (III:4) and two other family members (III:2, III:3). The acceptor-splice-site mutation was validated and verified using polymerase chain reaction (PCR) and Sanger sequencing. Gene functions and pathways associated with the identified mutations were subjected to in silico analysis. Results. A novel COL5A1 acceptor-splice-site mutation IVS50-4C > G was found in the 10 affected individuals in the three-generation KC family, but this was not found in any of the unaffected family members or unrelated healthy individuals. Gene functional analysis using the SpliceMan and ExonScan software predicted that the splice-site mutation was potentially associated with KC pathogenesis. This mutation might affect the assembly of the collagen triple helix. Conclusion. The present study confirmed the association between the COL5A1 gene and KC and identified a novel COL5A1 acceptor-splice-site mutation (IVS50-4C > G) in intron 50, which may affect the splicing of the adjacent exon 50.

scholarly journals Genome-wide copy number scan identifies IRF6 involvement in Van der Woude syndrome in an Indian family

2014 ◽  
Vol 96 ◽  
Author(s):  
DINESH S. MANJEGOWDA ◽  
MANU PRASAD ◽  
AVINASH M. VEERAPPA ◽  
NALLUR B. RAMACHANDRA
Keyword(s):  
Copy Number ◽  
Cleft Lip ◽  
Copy Number Variations ◽  
Signalling Pathways ◽  
Van Der Woude Syndrome ◽  
Lower Lip ◽  
Indian Family ◽  
South Indian ◽  
Cleft Lip Palate ◽  
Genome Copy Number

SummaryVan der Woude syndrome (VWS) is an autosomal dominant developmental malformation presenting with bilateral lower lip pits related to cleft lip, cleft palate and other malformations. We performed a whole-genome copy number variations (CNVs) scan in an Indian family with members suffering from VWS using 2·6 million combined SNP and CNV markers. We found CNVs affecting IRF6, a known candidate gene for VWS, in all three cases, while none of the non-VWS members showed any CNVs in the IRF6 region. The duplications and deletions of the chromosomal critical region in 1q32–q41 confirm the involvement of CNVs in IRF6 in South Indian VWS patients. Molecular network analysis of these and other cleft lip/palate related module genes suggests that they are associated with cytokine-mediated signalling pathways and response to interferon-gamma mediated signalling pathways. This is a maiden study indicating the involvement of CNVs in IRF6 in causing VWS in the Indian population.

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