High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases Article Swipe
Semra Hız Kurul
,
Yavuz Oktay
,
Ana Töpf
,
Nóra Szabó
,
Serdal Güngör
,
Ahmet Yaramış
,
Ece Sönmezler
,
Leslie Matalonga
,
Uluç Yiş
,
Katherine Schon
,
Ida Paramonov
,
İpek Polat Kalafatcilar
,
Fei Gao
,
Aliz Rieger
,
Nur Arslan
,
Elmasnur Yilmaz
,
Burcu Ekinci
,
Pınar Edem
,
Mahmut Aslan
,
Bilge Özgör
,
Angela Lochmüller
,
Ashwati Nair
,
Emily O’Heir
,
Alysia Kern Lovgren
,
Reza Maroofian
,
Henry Houlden
,
Kiran Polavarapu
,
Andreas Roos
,
Juliane Müller
,
Denisa Hathazi
,
Patrick F. Chinnery
,
Steven Laurie
,
Sergi Beltrán
,
Hanns Lochmüller
,
Rita Horvàth
·
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1093/brain/awab395
YOU?
·
· 2021
· Open Access
·
· DOI: https://doi.org/10.1093/brain/awab395
Consanguineous marriages have a prevalence rate of 24% in Turkey. These carry an increased risk of autosomal recessive genetic conditions, leading to severe disability or premature death, with a significant health and economic burden. A definitive molecular diagnosis could not be achieved in these children previously, as infrastructures and access to sophisticated diagnostic options were limited. We studied the cause of neurogenetic disease in 246 children from 190 consanguineous families recruited in three Turkish hospitals between 2016 and 2020. All patients underwent deep phenotyping and trio whole exome sequencing, and data were integrated in advanced international bioinformatics platforms. We detected causative variants in 119 known disease genes in 72% of families. Due to overlapping phenotypes 52% of the confirmed genetic diagnoses would have been missed on targeted diagnostic gene panels. Likely pathogenic variants in 27 novel genes in 14% of the families increased the diagnostic yield to 86%. Eighty-two per cent of causative variants (141/172) were homozygous, 11 of which were detected in genes previously only associated with autosomal dominant inheritance. Eight families carried two pathogenic variants in different disease genes. De novo (9.3%), X-linked recessive (5.2%) and compound heterozygous (3.5%) variants were less frequent compared to non-consanguineous populations. This cohort provided a unique opportunity to better understand the genetic characteristics of neurogenetic diseases in a consanguineous population. Contrary to what may be expected, causative variants were often not on the longest run of homozygosity and the diagnostic yield was lower in families with the highest degree of consanguinity, due to the high number of homozygous variants in these patients. Pathway analysis highlighted that protein synthesis/degradation defects and metabolic diseases are the most common pathways underlying paediatric neurogenetic disease. In our cohort 164 families (86%) received a diagnosis, enabling prevention of transmission and targeted treatments in 24 patients (10%). We generated an important body of genomic data with lasting impacts on the health and wellbeing of consanguineous families and economic benefit for the healthcare system in Turkey and elsewhere. We demonstrate that an untargeted next generation sequencing approach is far superior to a more targeted gene panel approach, and can be performed without specialized bioinformatics knowledge by clinicians using established pipelines in populations with high rates of consanguinity.
Related Topics
Concepts
Disease gene identification
Exome sequencing
Consanguinity
Genetics
Genetic counseling
Exome
Disease
Genetic heterogeneity
Genetic testing
Medicine
Biology
Cohort
Compound heterozygosity
Population
Gene
Phenotype
Pathology
Environmental health
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1093/brain/awab395
- https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awab395/41164287/awab395.pdf
- OA Status
- hybrid
- Cited By
- 29
- References
- 33
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W3213304273
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W3213304273Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.1093/brain/awab395Digital Object Identifier
- Title
-
High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseasesWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2021Year of publication
- Publication date
-
2021-10-13Full publication date if available
- Authors
-
Semra Hız Kurul, Yavuz Oktay, Ana Töpf, Nóra Szabó, Serdal Güngör, Ahmet Yaramış, Ece Sönmezler, Leslie Matalonga, Uluç Yiş, Katherine Schon, Ida Paramonov, İpek Polat Kalafatcilar, Fei Gao, Aliz Rieger, Nur Arslan, Elmasnur Yilmaz, Burcu Ekinci, Pınar Edem, Mahmut Aslan, Bilge Özgör, Angela Lochmüller, Ashwati Nair, Emily O’Heir, Alysia Kern Lovgren, Reza Maroofian, Henry Houlden, Kiran Polavarapu, Andreas Roos, Juliane Müller, Denisa Hathazi, Patrick F. Chinnery, Steven Laurie, Sergi Beltrán, Hanns Lochmüller, Rita HorvàthList of authors in order
- Landing page
-
https://doi.org/10.1093/brain/awab395Publisher landing page
- PDF URL
-
https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awab395/41164287/awab395.pdfDirect link to full text PDF
- Open access
-
YesWhether a free full text is available
- OA status
-
hybridOpen access status per OpenAlex
- OA URL
-
https://academic.oup.com/brain/advance-article-pdf/doi/10.1093/brain/awab395/41164287/awab395.pdfDirect OA link when available
- Concepts
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Disease gene identification, Exome sequencing, Consanguinity, Genetics, Genetic counseling, Exome, Disease, Genetic heterogeneity, Genetic testing, Medicine, Biology, Cohort, Compound heterozygosity, Population, Gene, Phenotype, Pathology, Environmental healthTop concepts (fields/topics) attached by OpenAlex
- Cited by
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29Total citation count in OpenAlex
- Citations by year (recent)
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2025: 10, 2024: 8, 2023: 8, 2022: 3Per-year citation counts (last 5 years)
- References (count)
-
33Number of works referenced by this work
- Related works (count)
-
10Other works algorithmically related by OpenAlex
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