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Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka.

ABSTRACT: BACKGROUND:Pediatric cataract is an important cause of blindness and visual impairment in children. A large proportion of pediatric cataracts are inherited, and many genes have been described for this heterogeneous Mendelian disease. Surveys of schools for the blind in Bhutan, Cambodia, and Sri Lanka have identified many children with this condition and we aimed to identify the genetic causes of inherited cataract in these populations. METHODS:We screened, in parallel, 51 causative genes for inherited cataracts in 33 probands by Ampliseq enrichment and sequencing on an Ion Torrent PGM. Rare novel protein coding variants were assessed for segregation in family members, where possible, by Sanger sequencing. RESULTS:We identified 24 rare (frequency <1% in public databases) or novel protein coding variants in 12 probands and confirmed segregation of variants with disease in the extended family where possible. Of these, six are predicted to be the cause of disease in the patient, with four other variants also highly likely to be pathogenic. CONCLUSION:This study found that 20%-30% of patients in these countries have a mutation in a known cataract causing gene, which is considerably lower than the 60%-70% reported in Caucasian cohorts. This suggests that additional cataract genes remain to be discovered in this cohort of Asian pediatric cataract patients.

SUBMITTER: Javadiyan S

PROVIDER: S-EPMC6081222 | biostudies-literature | 2018 May

REPOSITORIES: biostudies-literature

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Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka.

Javadiyan Shari S Lucas Sionne E M SEM Wangmo Dechen D Ngy Meng M Edussuriya Kapila K Craig Jamie E JE Rudkin Adam A Casson Robert R Selva Dinesh D Sharma Shiwani S Lower Karen M KM Meucke James J Burdon Kathryn P KP

Molecular genetics & genomic medicine 20180516

<h4>Background</h4>Pediatric cataract is an important cause of blindness and visual impairment in children. A large proportion of pediatric cataracts are inherited, and many genes have been described for this heterogeneous Mendelian disease. Surveys of schools for the blind in Bhutan, Cambodia, and Sri Lanka have identified many children with this condition and we aimed to identify the genetic causes of inherited cataract in these populations.<h4>Methods</h4>We screened, in parallel, 51 causativ ...[more]

PMID: 29770612

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Project description:This paper investigates human flourishing in five culturally distinct populations. Empirical differences in human flourishing were examined using the recently proposed Flourish Index (FI) and Secure Flourish Index (SFI). Five domains for human flourishing are proposed for FI: (D1) happiness and life satisfaction; (D2) physical and mental health; (D3) meaning and purpose; (D4) character and virtue; and (D5) close social relationships. Specification of SFI was augmented by an additional financial and material stability domain (D6). Psychometric properties of FI and SFI were examined using data from the SHINE Well-Being Survey. Between June 2017 and March 2018, a total of 8,873 respondents participated in the study - in the US (4083 participants), Sri Lanka (1284 participants), Cambodia (587 participants), China (419 participants), and Mexico (2500 participants). US participants were customers of a financial institution, while non-US participants were clothing industry workers in the supply chain of a global brand. Exploratory and confirmatory factor models were used to validate the proposed indices. An exploratory approach informed analysis for item groupings. Confirmatory factor models were used to investigate the hierarchical structure of the indices. Configural, metric, and partial scalar measurement invariance were established, which not only supported the universal character of the indices but also validated use of the indices for culturally distinct populations. Findings from our study enrich our knowledge about human flourishing in five culturally distinct populations. With the exception of happiness and life satisfaction, respondents in the US, despite enjoying the highest financial and material stability, scored the lowest in all other domains of human flourishing. Respondents in China excelled in close social relationship and health domains. In addition to life satisfaction and happiness, character and virtue were relatively high in Cambodia. Respondents in Mexico, despite having the lowest scores in financial and material stability, had the greatest meaning and purpose to their lives. Respondents in Sri Lanka were the least happy and satisfied with life.

Dataset Information

Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka.

Publications

Identification of novel mutations causing pediatric cataract in Bhutan, Cambodia, and Sri Lanka.

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