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Hermanto I, Chandra CK, Utari A, Winarni TI, Cayami FK. Knowledge of genetics and attitudes toward genetic testing among university students in Indonesia. J Community Genet 2024; 15:433-447. [PMID: 38851656 PMCID: PMC11410749 DOI: 10.1007/s12687-024-00711-0] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Key Words] [Grants] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/20/2023] [Accepted: 05/02/2024] [Indexed: 06/10/2024] Open
Abstract
The development in human genetics must be tracked with the knowledge to provide support and positive attitudes towards genetic research and its healthcare applications, including genetic testing. Unfortunately, there has been a delay in enacting public policies related to the genetics professionals as well as the diagnosis, treatment, and prevention of genetic diseases in Indonesia. This research was conducted to build an overview of genetic knowledge and public attitudes toward genetic testing among Indonesian undergraduates. This cross-sectional study involved undergraduate students selected using the convenience sampling method. The questionnaire consisted of two parts: a true/false questionnaire (16 statements) regarding knowledge of genetics and a 5-points Likert scale questionnaire (27 statements) pertaining to attitudes towards genetic testing. A total of 1596 undergraduate students completed online questionnaire. The highest knowledge score and the most positive overall attitudes were observed in the healthcare-related majors compared to those who studied science and technology and social and humanity. A weak positive correlation was observed between knowledge and attitude toward genetic testing (Pearson's r = 0.206, p < 0.001). Undergraduate students from healthcare-related majors displayed better in both knowledge of genetics and had more positive attitudes toward genetic testing.
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Affiliation(s)
- Iskandar Hermanto
- Faculty of Medicine, Universitas Diponegoro, Semarang, 50275, Central Java, Indonesia
| | | | - Agustini Utari
- Center for Biomedical Research (CEBIOR), Faculty of Medicine, Universitas Diponegoro, Semarang, 50275, Central Java, Indonesia
- Department of Pediatric, Faculty of Medicine, Universitas Diponegoro/Dr, Kariadi Hospital Semarang, Semarang, 50275, Central Java, Indonesia
| | - Tri Indah Winarni
- Center for Biomedical Research (CEBIOR), Faculty of Medicine, Universitas Diponegoro, Semarang, 50275, Central Java, Indonesia
- Department of Anatomy, Faculty of Medicine, Universitas Diponegoro, Semarang, 50275, Central Java, Indonesia
| | - Ferdy Kurniawan Cayami
- Center for Biomedical Research (CEBIOR), Faculty of Medicine, Universitas Diponegoro, Semarang, 50275, Central Java, Indonesia.
- Department of Anatomy, Faculty of Medicine, Universitas Diponegoro, Semarang, 50275, Central Java, Indonesia.
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Demirhan O, Hergüner Ö, Tunç E. A Cytogenetic Study of Turkish Children with Global Developmental Delay. J Pediatr Genet 2022. [DOI: 10.1055/s-0042-1758872] [Citation(s) in RCA: 0] [Impact Index Per Article: 0] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Indexed: 12/05/2022]
Abstract
AbstractGlobal developmental delay (GDD)/intellectual disability (ID) is common in children and its etiology is unknown in many cases. Chromosomal abnormalities are predominant genetic causes of GDD/ID. The aim of this study is to determine the genetic risk factors that may be involved in the etiology of GDD/ID. In this study, 810 children with moderate to severe, clinically unexplained GDD/ID for whom cytogenetic analysis were performed were retrospectively rescreened. The results showed that GDD/ID affected more females than males (2 girls:1 boy). A total of 54 children (6.7%) with GDD showed chromosomal aberrations (CAs): 59.3% of these CAs were structural aberrations, and the rest were numerical aberrations (40.7%). Specifically, inversions, deletions, and reciprocal and robertsonian translocations, which were detected in 1, 0.7, 0.8, and 0.4% of the children, respectively, constituted important categories of structural CAs. Among numerical CAs, classic Turner and mosaics were detected in 1.2% of all children. Trisomy 21 and mosaic trisomy 21 were detected in 1% of the children. Marker chromosomes and 47,XXY karyotypes were found in two children each. Our results suggest that female sex is more affected by CAs among GDD/ID cases, and cytogenetic analysis is useful in the etiological diagnosis of GDD/ID.
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Affiliation(s)
- Osman Demirhan
- Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, Balcali-Adana, Turkey
| | - Özlem Hergüner
- Department of Child Neurology, Faculty of Medicine, Çukurova University, Balcali-Adana, Turkey
| | - Erdal Tunç
- Department of Medical Biology and Genetics, Faculty of Medicine, Çukurova University, Balcali-Adana, Turkey
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Uwineza A, Hitayezu J, Jamar M, Caberg JH, Murorunkwere S, Janvier N, Bours V, Mutesa L. Cytogenetic Studies of Rwandan Pediatric Patients Presenting with Global Developmental Delay, Intellectual Disability and/or Multiple Congenital Anomalies. J Trop Pediatr 2016; 62:38-45. [PMID: 26507407 PMCID: PMC4935782 DOI: 10.1093/tropej/fmv065] [Citation(s) in RCA: 2] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 01/28/2023]
Abstract
Global developmental delay (GDD) is defined as a significant delay in two or more developmental domains: gross or fine motor, speech/language, cognitive, social/personal and activities of daily living. Many of these children will go on to be diagnosed with intellectual disability (ID), which is most commonly defined as having an IQ <75 in addition to impairment in adaptive functioning. Cytogenetic studies have been performed in 664 Rwandan pediatric patients presenting GDD/ID and/or multiple congenital abnormalities (MCA). Karyotype analysis was performed in all patients and revealed 260 chromosomal abnormalities. The most frequent chromosomal abnormality was Down syndrome and then Edward syndrome and Patau syndrome. Other identified chromosomal abnormalities included 47,XX,+del(9)(q11), 46,XY,del(13)(q34) and 46,XX,der(22)t(10;22)(p10;p10)mat. In conclusion, our results highlight the high frequency of cytogenetically detectable abnormalities in this series, with implications for the burden on the healthcare. This study demonstrates the importance of cytogenetic analysis in patients with GDD/ID and MCA.
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Affiliation(s)
- Annette Uwineza
- Center for Medical Genetics, College of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda,Center for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liege, Liege, Belgium
| | - Janvier Hitayezu
- Center for Medical Genetics, College of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda
| | - Mauricette Jamar
- Center for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liege, Liege, Belgium
| | - Jean-Hubert Caberg
- Center for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liege, Liege, Belgium
| | - Seraphine Murorunkwere
- Center for Medical Genetics, College of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda
| | - Ndinkabandi Janvier
- Center for Medical Genetics, College of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda
| | - Vincent Bours
- Center for Human Genetics, Centre Hospitalier Universitaire Sart-Tilman, University of Liege, Liege, Belgium
| | - Leon Mutesa
- Center for Medical Genetics, College of Medicine and Health Sciences, University of Rwanda, Huye, Rwanda
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Validation of a Commercially Available Screening Tool for the Rapid Identification of CGG Trinucleotide Repeat Expansions in FMR1. J Mol Diagn 2015; 17:302-14. [DOI: 10.1016/j.jmoldx.2014.12.005] [Citation(s) in RCA: 11] [Impact Index Per Article: 1.1] [Reference Citation Analysis] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/07/2014] [Revised: 12/18/2014] [Accepted: 12/22/2014] [Indexed: 11/24/2022] Open
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A Rare, Recurrent, De Novo 14q32.2q32.31 Microdeletion of 1.1 Mb in a 20-Year-Old Female Patient with a Maternal UPD(14)-Like Phenotype and Intellectual Disability. Case Rep Genet 2014; 2014:530134. [PMID: 24800088 PMCID: PMC3985205 DOI: 10.1155/2014/530134] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 12/27/2013] [Accepted: 02/19/2014] [Indexed: 11/18/2022] Open
Abstract
We present a 20-year-old female patient from Indonesia with intellectual disability (ID), proportionate short stature, motor delay, feeding problems, microcephaly, facial dysmorphism, and precocious puberty who was previously screened normal for conventional karyotyping, fragile X testing, and subtelomeric MLPA analysis. Subsequent genome wide array analysis was performed on DNA from blood and revealed a 1.1 Mb deletion in 14q32.2q32.31 (chr14:100,388,343-101,506,214; hg19). Subsequent carrier testing in the parents by array showed that the deletion had occurred de novo in the patient and that her paternal 14q32 allele was deleted. The deleted region encompasses the DLK1/GTL2 imprinted gene cluster which is consistent with the maternal UPD(14)-like phenotype of the patient. This rare, recurrent microdeletion was recently shown not to be mediated by low copy repeats, but by expanded TGG repeats, flanking the 14q32.2q32.21 deletion boundaries, a novel mechanism of recurrent genomic rearrangement. This is another example how the application of high resolution genome wide testing provides an accurate genetic diagnosis, thereby improving the care for patients and optimizing the counselling for family.
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Mundhofir FEP, Nillesen WM, Van Bon BWM, Smeets D, Pfundt R, van de Ven-Schobers G, Ruiterkamp-Versteeg M, Winarni TI, Hamel BCJ, Yntema HG, Faradz SMH. Subtelomeric chromosomal rearrangements in a large cohort of unexplained intellectually disabled individuals in Indonesia: A clinical and molecular study. INDIAN JOURNAL OF HUMAN GENETICS 2013; 19:171-8. [PMID: 24019618 PMCID: PMC3758723 DOI: 10.4103/0971-6866.116118] [Citation(s) in RCA: 7] [Impact Index Per Article: 0.6] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Figures] [Subscribe] [Scholar Register] [Indexed: 11/04/2022]
Abstract
CONTEXT Unbalanced subtelomeric chromosomal rearrangements are often associated with intellectual disability (ID) and malformation syndromes. The prevalence of such rearrangements has been reported to be 5-9% in ID populations. AIMS To study the prevalence of subtelomeric rearrangements in the Indonesian ID population. MATERIALS AND METHODS We tested 436 subjects with unexplained ID using multiplex ligation dependent probe amplification (MLPA) using the specific designed sets of probes to detect human subtelomeric chromosomal imbalances (SALSA P070 and P036D). If necessary, abnormal findings were confirmed by other MLPA probe kits, fluorescent in situ hybridization or Single Nucleotide Polymorphism array. RESULTS A subtelomeric aberration was identified in 3.7% of patients (16/436). Details on subtelomeric aberrations and confirmation analyses are discussed. CONCLUSION This is the first study describing the presence of subtelomeric rearrangements in individuals with ID in Indonesia. Furthermore, it shows that also in Indonesia such abnormalities are a prime cause of ID and that in developing countries with limited diagnostic services such as Indonesia, it is important and feasible to uncover the genetic etiology in a significant number of cases with ID.
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Affiliation(s)
- Farmaditya E P Mundhofir
- Division of Human Genetics, Center for Biomedical Research, Faculty of Medicine Diponegoro University, Semarang, Indonesia ; Department of Human Genetics, Radboud University Nijmegen Medical Centre, Nijmegen, The Netherlands
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Mowat-Wilson syndrome: the first clinical and molecular report of an indonesian patient. Case Rep Genet 2012; 2012:949507. [PMID: 23243526 PMCID: PMC3517822 DOI: 10.1155/2012/949507] [Citation(s) in RCA: 1] [Impact Index Per Article: 0.1] [Reference Citation Analysis] [Abstract] [Track Full Text] [Download PDF] [Figures] [Journal Information] [Subscribe] [Scholar Register] [Received: 10/20/2012] [Accepted: 11/06/2012] [Indexed: 12/19/2022] Open
Abstract
Mowat-Wilson syndrome (OMIM 235730) is a genetic condition characterized by moderate-to-severe intellectual disability, a recognizable facial phenotype, and multiple congenital anomalies. The striking facial phenotype in addition to other features such as severely impaired speech, hypotonia, microcephaly, short stature, seizures, corpus callosum agenesis, congenital heart defects, hypospadias, and Hirschsprung disease are particularly important clues for the initial clinical diagnosis. All molecularly confirmed cases with typical MWS have a heterozygous loss-of-function mutation in the zinc finger E-box protein 2 (ZEB2) gene, also called SIP1 (Smad-interacting protein 1) and ZFHX1B, suggesting that haploinsufficiency is the main pathological mechanism. Approximately 80% of mutations are nonsense and frameshift mutations (small insertions or deletions). About half of these mutations are located in exon eight. Here, we report the first Indonesian patient with Mowat-Wilson syndrome confirmed by molecular analysis.
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Mundhofir FEP, Smeets D, Nillesen W, Winarni TI, Yntema HG, de Leeuw N, Hamel BCJ, Faradz SMH, van Bon BWM. Monosomy 9pter and trisomy 9q34.11qter in two sisters due to a maternal pericentric inversion. Gene 2012; 511:451-4. [PMID: 22995347 DOI: 10.1016/j.gene.2012.09.018] [Citation(s) in RCA: 3] [Impact Index Per Article: 0.2] [Reference Citation Analysis] [Abstract] [Track Full Text] [Journal Information] [Subscribe] [Scholar Register] [Received: 02/08/2012] [Revised: 05/14/2012] [Accepted: 09/05/2012] [Indexed: 10/27/2022]
Abstract
Pericentric inversions of chromosome 9 leading to unbalanced live-born offspring are relatively rare and so far only four cases have been reported. Here we present two sisters with an unbalanced recombinant chromosome 9 which resulted from a large maternal pericentric inversion inv(9)(p24.3q34.1). Further molecular characterisation of the aberrant chromosome 9 by 250k SNP array analysis showed a terminal 460 kb loss of 9p24.3 and a terminal 8.9 Mb gain of 9q34.11. We compared the clinical features of these two patients with the previous reported four cases as well as with patients with similar sized 9pter deletions or 9qter duplications. Based upon this study, we suggest that the recombinant chromosome 9 phenotype is mainly the result of duplication of a 3.4 Mb region of chromosome 9q34.11q34.13.
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Affiliation(s)
- Farmaditya E P Mundhofir
- Department of Human Genetics, Radboud University Nijmegen Medical Centre, P.O. Box 9101, 6500 HB Nijmegen, The Netherlands
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Mundhofir FEP, Winarni TI, Nillesen W, Bon BWMV, Schepens M, Ruiterkamp-Versteeg M, Hamel BCJ, Yntema HG, Faradz SMH. Prevalence of fragile X syndrome in males and females in Indonesia. World J Med Genet 2012; 2:15-22. [DOI: 10.5496/wjmg.v2.i3.15] [Citation(s) in RCA: 5] [Impact Index Per Article: 0.4] [Reference Citation Analysis] [Abstract] [Key Words] [Track Full Text] [Download PDF] [Journal Information] [Submit a Manuscript] [Subscribe] [Scholar Register] [Indexed: 02/06/2023] Open
Abstract
AIM: To investigate the prevalence of fragile X syndrome (FXS) in intellectually disabled male and female Indonesians.
METHODS: This research is an extension of a previously reported study on the identification of chromosomal aberrations in a large cohort of 527 Indonesians with intellectual disability (ID). In this previous study, 87 patients had a chromosomal abnormality, five of whom expressed fragile sites on Xq27.3. Since FXS cannot always be identified by cytogenetic analysis, molecular testing of the fragile X mental retardation 1 CGG repeat was performed in 440 samples. The testing was also conducted in the five previously identified samples to confirm the abnormality. In total, a molecular study was conducted in 445 samples (162 females and 283 males).
RESULTS: In the cohort of Indonesian ID population, the prevalence of FXS is 9/527 (1.7%). The prevalence in males and females is 1.5% (5/329) and 2% (4/198), respectively. Segregation analysis in the families and X-inactivation studies were performed. We performed the first comprehensive genetic survey of a representative sample of male and female ID individuals from institutions and special schools in Indonesia. Our findings show that a comprehensive study of FXS can be performed in a developing country like Indonesia where diagnostic facilities are limited.
CONCLUSION: The prevalence of FXS is equal in females and males in our study, which suggests that the prevalence of FXS in females could be underestimated.
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