Novel deletion of exon 3 in TYR gene causing Oculocutaneous albinism 1B in an Indian family along with intellectual disability associated with chromosomal copy number variations

Background Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypo-pigmentation of skin, hair, and eyes. The OCA clinical presentation is due to a deficiency of melanin biosynthesis. Intellectual disability (ID) in OCA cases is a rare clinical presentation and appropriate diagnosis of ID is challenging through clinical examination. We report an Indian family with a rare co-inheritance of OCA1B and ID due to a novel TYR gene variant and chromosomal copy number variations. Methods We have done a study on three siblings (2 males and 1 female) of a family where all of them presented with hypopigmented skin, hair and eyes. The male children and their father was affected with ID. Targeted exome sequencing and multiplex ligation-dependent probe amplification analysis were carried out to identify the OCA1B and ID associated genomic changes. Further Array-CGH was performed using SurePrint G3 Human CGH + SNP, 8*60 K array. Results A rare homozygous deletion of exon 3 in TYR gene causing OCA1B was identified in all three children. The parents were found to be heterozygous carriers. The Array-CGH analysis revealed paternally inherited heterozygous deletion(1.9 MB) of 15q11.1-> 15q11.2 region in all three children. Additionally, paternally inherited heterozygous deletion(2.6 MB)of 10q23.2-> 10q23.31 region was identified in the first male child; this may be associated with ID as the father and the child both presented with ID. While the 2nd male child had a denovo duplication of 13q31.1-> 13q31.3 chromosomal region. Conclusion A rare homozygous TYR gene exon 3 deletion in the present study is the cause of OCA1B in all three children, and the additional copy number variations are associated with the ID. The study highlights the importance of combinational genetic approaches for diagnosing two different co-inherited disorders (OCA and ID). Hence, OCA cases with additional clinical presentation need to be studied in-depth forthe appropriate management of the disease.

Entrepreneurial behavior of family firms in the Indian community: adoption of a technology platform as a moderator

Purpose This study aims to investigate the generalizability of Daniela Weismeier-Sammer’s (2011) replication study on entrepreneurial behavior and extended the model by considering the adoption of a technology platform as a moderator in the Indian family entrepreneurship community. Design/methodology/approach The earlier replication study was conducted in Austria, and this one has been conducted in India with 372 respondents of Indian family firms. The study has used the structural equation modeling technique for analysis purposes. The study has also used multi-group analysis for understanding the moderator impact. Findings Willingness to change, generational involvement, perceived technological opportunities and corporate entrepreneurship for the Indian family business community, along with strategic planning, as a moderating factor, formed the earlier model. In the context of strategic planning, this study observes a similarity, but due to the consideration of the additional moderator, the role of generational involvement has become insignificant. Research limitations/implications This study adds value to the overall body of literature on the family business community, digital entrepreneurship and technology adoption in the family business community. The study provides valuable inputs on the digital entrepreneurship and family business firms which could be used by entrepreneurs, policymakers and practitioners for different purposes. The sample size is small and India specific so the proposed model cannot be generalizable. Originality/value This study has used replication and validation techniques in the digital entrepreneurship community and new venture creation in the Indian context. Very few studies have explored the digital entrepreneurship phenomenon in the Indian family business community context. Also, the use of adoption of technology platform as a moderator enhances the model from the earlier study. Thus, this study is deemed to be a unique research study.

Institution Building in Indian Business: Dynamics and Dilemmas

This article examines an ‘Institution’ and its distinguishing features from ‘Organisation’. It enquires into the dynamics generated when Western structural assumptions juxtapose with an Indian world view, more particularly in Indian Family Businesses, that seek to transform into institutions. In this transformation into a ‘Modern’ institution, several dilemmas, tensions and paradoxes emerge (often unseen) that have the risk of stalling progress, or in reducing the potential for institutional vibrancy and perpetuity. The integration depends on the wholesome cross-assimilation of these vastly different paradigms. This article delves into these invisible cross-currents and formulates a few hypotheses and recommendations for regeneration and vitality.

Board independence and earnings management: influence of family business generation

Purpose This study aims at investigating the moderating role of family business generation on the association between board independence and earnings management practices of Indian family firms. Design/methodology/approach This study uses panel data regression models to analyze the data. Board independence is operationalized via the proportion of independent directors on board and the dual role of chief executive officer. Earnings management is operationalized through discretionary accruals, which are estimated by the performance-adjusted modified Jones model (Kothari et al., 2005). Family business generation is based on the firm’s age, where each generation is equated to a period of 25 years. The parameters of interest are estimated through the hybrid model (Allison, 2009) which controls for the unobserved cross-sectional heterogeneity across firms while estimating the coefficients for time-invariant variables. Findings Based on a sample of 26,962 Bombay Stock Exchange–listed firm-years, spanning over 13 years from the year ending March 2007 to March 2019, the results exhibit that Indian family firms are less likely to be engaged in earnings management; board independence is ineffective in controlling the earnings management practices of firms, and this relation is found to be more pronounced among family firms; first-generation family firms are more likely to be engaged in earnings management than second- or third-generation firms; and board independence has a weaker role in curbing the earnings management practices of first-generation family firms. Overall, the results exhibit that generational involvement significantly influences the association between family firms and earnings management and moderates the relationship between board independence and earnings management. These results are robust to sensitivity measures. Originality/value This is the first study that examines the moderating impact of family business generation on the association between board independence and earnings management according to the author’s knowledge. Besides, this is among the earlier attempts to investigate the earnings management practices of Indian family firms.

Whole genome sequencing identifies novel structural variant in a large Indian family affected with X-linked agammaglobulinemia

X—linked agammaglobulinemia (XLA, OMIM #300755) is a primary immunodeficiency disorder caused by pathogenic variations in the BTK gene, characterized by failure of development and maturation of B lymphocytes. The estimated prevalence worldwide is 1 in 190,000 male births. Recently, genome sequencing has been widely used in difficult to diagnose and familial cases. We report a large Indian family suffering from XLA with five affected individuals. We performed complete blood count, immunoglobulin assay, and lymphocyte subset analysis for all patients and analyzed Btk expression for one patient and his mother. Whole exome sequencing (WES) for four patients, and whole genome sequencing (WGS) for two patients have been performed. Carrier screening was done for 17 family members using Multiplex Ligation-dependent Probe Amplification (MLPA) and haplotype ancestry mapping using fineSTRUCTURE was performed. All patients had hypogammaglobulinemia and low CD19+ B cells. One patient who underwent Btk estimation had low expression and his mother showed a mosaic pattern. We could not identify any single nucleotide variants or small insertion/ deletions from the WES dataset that correlates with the clinical feature of the patient. Structural variant analysis through WGS data identifies a novel large deletion of 5,296 bp at loci chrX:100,624,323–100,629,619 encompassing exons 3–5 of the BTK gene. Family screening revealed seven carriers for the deletion. Two patients had a successful HSCT. Haplotype mapping revealed a South Asian ancestry. WGS led to identification of the accurate genetic mutation which could help in early diagnosis leading to improved outcomes, prevention of permanent organ damage and improved quality of life, as well as enabling genetic counselling and prenatal diagnosis in the family.

Business Succession in Indian Family Businesses in South Africa

Family businesses play a pivotal role economically and socially in most countries. The study aimed to identify and understand the experiences of Indian family businesses in South Africa with regard to business succession. A quantitative research approach was used with data collected through Google forms online survey. Data was collected from sixty (60) business people from Indian-owned family businesses in South Africa. The study interrogated the following factors which have an influence on family business succession: business ownership influence in succession, business readiness for the exit of owner and succession, the role of the owner after exit from business and selection criteria of the right successor. Findings revealed that the majority of families (86.27%) said it is important to have a hundred percent or full ownership of the business and that a successor should be selected within the family from their bloodline. Findings also revealed that the majority of businesses (86.27%) were not fully ready for the exit of the owner or current leader of the business and that on the exit of the owner; a majority (90.2%) of businesses will prefer to have the owner playing an active advisory role in the business. It is recommended that family-owned businesses should plan for succession on time and draft a well-planned strategic succession plan for the business. It is also recommended that an objective criterion be used in selecting a successor who will take the business forward. Healthy business continuity should be the ultimate goal of succession and families should not sacrifice successful business continuity because of their, internal differences and conflict, culture, blood relations, gender or religion.