Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal Fragility Article Swipe
Alice Costantini
,
Sini Skarp
,
Anders Kämpe
,
Riikka E. Mäkitie
,
Maria Pettersson
,
Minna Männikkö
,
Hong Jiao
,
Fulya Taylan
,
Anna Lindstrand
,
Outi Mäkitie
·
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.3389/fendo.2018.00380
YOU?
·
· 2018
· Open Access
·
· DOI: https://doi.org/10.3389/fendo.2018.00380
Early-onset osteoporosis is characterized by low bone mineral density (BMD) and fractures since childhood or young adulthood. Several monogenic forms have been identified but the contributing genes remain inadequately characterized. In search for novel variants and novel candidate loci, we screened a cohort of 70 young subjects with mild to severe skeletal fragility for rare copy-number variants (CNVs). Our study cohort included 15 subjects with primary osteoporosis before age 30 years and 55 subjects with a pathological fracture history and low or normal BMD before age 16 years. A custom-made high-resolution comparative genomic hybridization array with enriched probe density in >1,150 genes important for bone metabolism and ciliary function was used to search for CNVs. We identified altogether 14 rare CNVs. Seven intronic aberrations were classified as likely benign. Five CNVs of unknown clinical significance affected coding regions of genes not previously associated with skeletal fragility (ETV1-DGKB, AGBL2, ATM, RPS6KL1-PGF, and SCN4A). Finally, two CNVs were pathogenic and likely pathogenic, respectively: a 4 kb deletion involving exons 1-4 of COL1A2 (NM_000089.3) and a 12.5 kb duplication of exon 3 in PLS3 (NM_005032.6). Although both genes have been linked to monogenic forms of osteoporosis, COL1A2 deletions are rare and PLS3 duplications have not been described previously. Both CNVs were identified in subjects with significant osteoporosis and segregated with osteoporosis within the families. Our study expands the number of pathogenic CNVs in monogenic skeletal fragility and shows the validity of targeted CNV screening to potentially pinpoint novel candidate loci in early-onset osteoporosis.
Related Topics
Concepts
Copy-number variation
Gene duplication
Comparative genomic hybridization
Osteoporosis
Genetics
Biology
Exon
Gene
Medicine
Genome
Endocrinology
Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.3389/fendo.2018.00380
- OA Status
- gold
- Cited By
- 30
- References
- 53
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W2809854307
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W2809854307Canonical identifier for this work in OpenAlex
- DOI
-
https://doi.org/10.3389/fendo.2018.00380Digital Object Identifier
- Title
-
Rare Copy Number Variants in Array-Based Comparative Genomic Hybridization in Early-Onset Skeletal FragilityWork title
- Type
-
articleOpenAlex work type
- Language
-
enPrimary language
- Publication year
-
2018Year of publication
- Publication date
-
2018-07-10Full publication date if available
- Authors
-
Alice Costantini, Sini Skarp, Anders Kämpe, Riikka E. Mäkitie, Maria Pettersson, Minna Männikkö, Hong Jiao, Fulya Taylan, Anna Lindstrand, Outi MäkitieList of authors in order
- Landing page
-
https://doi.org/10.3389/fendo.2018.00380Publisher landing page
- Open access
-
YesWhether a free full text is available
- OA status
-
goldOpen access status per OpenAlex
- OA URL
-
https://doi.org/10.3389/fendo.2018.00380Direct OA link when available
- Concepts
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Copy-number variation, Gene duplication, Comparative genomic hybridization, Osteoporosis, Genetics, Biology, Exon, Gene, Medicine, Genome, EndocrinologyTop concepts (fields/topics) attached by OpenAlex
- Cited by
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30Total citation count in OpenAlex
- Citations by year (recent)
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2025: 4, 2024: 3, 2023: 6, 2022: 1, 2021: 4Per-year citation counts (last 5 years)
- References (count)
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53Number of works referenced by this work
- Related works (count)
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.history | 78 |
| abstract_inverted_index.mineral | 7 |
| abstract_inverted_index.primary | 65 |
| abstract_inverted_index.regions | 137 |
| abstract_inverted_index.unknown | 132 |
| abstract_inverted_index.Although | 182 |
| abstract_inverted_index.Finally, | 152 |
| abstract_inverted_index.affected | 135 |
| abstract_inverted_index.clinical | 133 |
| abstract_inverted_index.deletion | 164 |
| abstract_inverted_index.enriched | 96 |
| abstract_inverted_index.fracture | 77 |
| abstract_inverted_index.function | 108 |
| abstract_inverted_index.included | 61 |
| abstract_inverted_index.intronic | 122 |
| abstract_inverted_index.pinpoint | 243 |
| abstract_inverted_index.screened | 40 |
| abstract_inverted_index.skeletal | 51, 144, 231 |
| abstract_inverted_index.subjects | 46, 63, 73, 210 |
| abstract_inverted_index.targeted | 238 |
| abstract_inverted_index.validity | 236 |
| abstract_inverted_index.variants | 34, 56 |
| abstract_inverted_index.candidate | 37, 245 |
| abstract_inverted_index.childhood | 13 |
| abstract_inverted_index.deletions | 194 |
| abstract_inverted_index.described | 203 |
| abstract_inverted_index.families. | 220 |
| abstract_inverted_index.fractures | 11 |
| abstract_inverted_index.fragility | 52, 145, 232 |
| abstract_inverted_index.important | 102 |
| abstract_inverted_index.involving | 165 |
| abstract_inverted_index.monogenic | 18, 189, 230 |
| abstract_inverted_index.screening | 240 |
| abstract_inverted_index.adulthood. | 16 |
| abstract_inverted_index.altogether | 117 |
| abstract_inverted_index.associated | 142 |
| abstract_inverted_index.classified | 125 |
| abstract_inverted_index.identified | 22, 116, 208 |
| abstract_inverted_index.metabolism | 105 |
| abstract_inverted_index.pathogenic | 156, 227 |
| abstract_inverted_index.previously | 141 |
| abstract_inverted_index.segregated | 215 |
| abstract_inverted_index.<i>PLS3</i> | 180, 198 |
| abstract_inverted_index.Early-onset | 0 |
| abstract_inverted_index.aberrations | 123 |
| abstract_inverted_index.comparative | 91 |
| abstract_inverted_index.copy-number | 55 |
| abstract_inverted_index.custom-made | 89 |
| abstract_inverted_index.duplication | 175 |
| abstract_inverted_index.early-onset | 248 |
| abstract_inverted_index.pathogenic, | 159 |
| abstract_inverted_index.potentially | 242 |
| abstract_inverted_index.previously. | 204 |
| abstract_inverted_index.significant | 212 |
| abstract_inverted_index.contributing | 25 |
| abstract_inverted_index.duplications | 199 |
| abstract_inverted_index.inadequately | 28 |
| abstract_inverted_index.osteoporosis | 1, 66, 213, 217 |
| abstract_inverted_index.pathological | 76 |
| abstract_inverted_index.significance | 134 |
| abstract_inverted_index.(NM_000089.3) | 170 |
| abstract_inverted_index.<i>COL1A2</i> | 169, 193 |
| abstract_inverted_index.characterized | 3 |
| abstract_inverted_index.hybridization | 93 |
| abstract_inverted_index.osteoporosis, | 192 |
| abstract_inverted_index.osteoporosis. | 249 |
| abstract_inverted_index.respectively: | 160 |
| abstract_inverted_index.(<i>ETV1-DGKB, | 146 |
| abstract_inverted_index.(NM_005032.6). | 181 |
| abstract_inverted_index.<i>SCN4A</i>). | 151 |
| abstract_inverted_index.characterized. | 29 |
| abstract_inverted_index.high-resolution | 90 |
| abstract_inverted_index.RPS6KL1-PGF</i>, | 149 |
| cited_by_percentile_year.max | 99 |
| cited_by_percentile_year.min | 89 |
| corresponding_author_ids | https://openalex.org/A5087908176 |
| countries_distinct_count | 2 |
| institutions_distinct_count | 10 |
| corresponding_institution_ids | https://openalex.org/I28166907 |
| sustainable_development_goals[0].id | https://metadata.un.org/sdg/3 |
| sustainable_development_goals[0].score | 0.4300000071525574 |
| sustainable_development_goals[0].display_name | Good health and well-being |
| citation_normalized_percentile.value | 0.89223085 |
| citation_normalized_percentile.is_in_top_1_percent | False |
| citation_normalized_percentile.is_in_top_10_percent | False |