Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions
Ellis-van Creveld (EVC) syndrome is an autosomal recessive skeletal ciliopathy that was first identified in the Old Order Amish. Since its discovery, two causal genes have been identified, EVC and EVC2, showing that several cases were misdiagnosed and were, in fact, other entities. Nevertheless, the...
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| Published in | Genetics in Medicine Open Vol. 1; no. 1; p. 100781 |
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| Main Authors | , , , |
| Format | Journal Article |
| Language | English |
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United States
Elsevier Inc
01.01.2023
Elsevier |
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| Online Access | Get full text |
| ISSN | 2949-7744 2949-7744 |
| DOI | 10.1016/j.gimo.2023.100781 |
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| Abstract | Ellis-van Creveld (EVC) syndrome is an autosomal recessive skeletal ciliopathy that was first identified in the Old Order Amish. Since its discovery, two causal genes have been identified, EVC and EVC2, showing that several cases were misdiagnosed and were, in fact, other entities. Nevertheless, there has not been any adequate phenotypic characterization of molecularly defined EVC syndrome so far.
We performed a systematic review of case reports of EVC syndrome with molecular confirmation of pathogenic variants in EVC or EVC2. Demographic, genetic, and clinical information of patients was assessed.
We reviewed 725 papers and obtained 54 case reports/series that met the inclusion criteria, with a total subject sample of 310. Of these, 190 had biallelic variants, whereas 28 were affected heterozygotes. Our analysis revealed new phenotypes that have not been classically linked to the syndrome and others that have been linked but are very rare. Monoallelic symptomatic forms had less expressivity, and biallelic cases were milder if associated with EVC and/or missense variants. Finally, we identified CRMP1, a gene whose coding region partially overlaps with EVC, as a potential genetic modifier of the severity of the EVC syndrome.
We provided the first objective clinical characterization of molecularly defined EVC syndrome and identified the first associated genetic modifier, CRMP1, which had not been implicated in human disease before. |
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| AbstractList | Ellis-van Creveld (EVC) syndrome is an autosomal recessive skeletal ciliopathy that was first identified in the Old Order Amish. Since its discovery, two causal genes have been identified,
and
, showing that several cases were misdiagnosed and were, in fact, other entities. Nevertheless, there has not been any adequate phenotypic characterization of molecularly defined EVC syndrome so far.
We performed a systematic review of case reports of EVC syndrome with molecular confirmation of pathogenic variants in
or
. Demographic, genetic, and clinical information of patients was assessed.
We reviewed 725 papers and obtained 54 case reports/series that met the inclusion criteria, with a total subject sample of 310. Of these, 190 had biallelic variants, whereas 28 were affected heterozygotes. Our analysis revealed new phenotypes that have not been classically linked to the syndrome and others that have been linked but are very rare. Monoallelic symptomatic forms had less expressivity, and biallelic cases were milder if associated with
and/or missense variants. Finally, we identified
, a gene whose coding region partially overlaps with
, as a potential genetic modifier of the severity of the EVC syndrome.
We provided the first objective clinical characterization of molecularly defined EVC syndrome and identified the first associated genetic modifier,
, which had not been implicated in human disease before. Ellis-van Creveld (EVC) syndrome is an autosomal recessive skeletal ciliopathy that was first identified in the Old Order Amish. Since its discovery, two causal genes have been identified, EVC and EVC2, showing that several cases were misdiagnosed and were, in fact, other entities. Nevertheless, there has not been any adequate phenotypic characterization of molecularly defined EVC syndrome so far.PurposeEllis-van Creveld (EVC) syndrome is an autosomal recessive skeletal ciliopathy that was first identified in the Old Order Amish. Since its discovery, two causal genes have been identified, EVC and EVC2, showing that several cases were misdiagnosed and were, in fact, other entities. Nevertheless, there has not been any adequate phenotypic characterization of molecularly defined EVC syndrome so far.We performed a systematic review of case reports of EVC syndrome with molecular confirmation of pathogenic variants in EVC or EVC2. Demographic, genetic, and clinical information of patients was assessed.MethodsWe performed a systematic review of case reports of EVC syndrome with molecular confirmation of pathogenic variants in EVC or EVC2. Demographic, genetic, and clinical information of patients was assessed.We reviewed 725 papers and obtained 54 case reports/series that met the inclusion criteria, with a total subject sample of 310. Of these, 190 had biallelic variants, whereas 28 were affected heterozygotes. Our analysis revealed new phenotypes that have not been classically linked to the syndrome and others that have been linked but are very rare. Monoallelic symptomatic forms had less expressivity, and biallelic cases were milder if associated with EVC and/or missense variants. Finally, we identified CRMP1, a gene whose coding region partially overlaps with EVC, as a potential genetic modifier of the severity of the EVC syndrome.ResultsWe reviewed 725 papers and obtained 54 case reports/series that met the inclusion criteria, with a total subject sample of 310. Of these, 190 had biallelic variants, whereas 28 were affected heterozygotes. Our analysis revealed new phenotypes that have not been classically linked to the syndrome and others that have been linked but are very rare. Monoallelic symptomatic forms had less expressivity, and biallelic cases were milder if associated with EVC and/or missense variants. Finally, we identified CRMP1, a gene whose coding region partially overlaps with EVC, as a potential genetic modifier of the severity of the EVC syndrome.We provided the first objective clinical characterization of molecularly defined EVC syndrome and identified the first associated genetic modifier, CRMP1, which had not been implicated in human disease before.ConclusionWe provided the first objective clinical characterization of molecularly defined EVC syndrome and identified the first associated genetic modifier, CRMP1, which had not been implicated in human disease before. Purpose: Ellis-van Creveld (EVC) syndrome is an autosomal recessive skeletal ciliopathy that was first identified in the Old Order Amish. Since its discovery, two causal genes have been identified, EVC and EVC2, showing that several cases were misdiagnosed and were, in fact, other entities. Nevertheless, there has not been any adequate phenotypic characterization of molecularly defined EVC syndrome so far. Methods: We performed a systematic review of case reports of EVC syndrome with molecular confirmation of pathogenic variants in EVC or EVC2. Demographic, genetic, and clinical information of patients was assessed. Results: We reviewed 725 papers and obtained 54 case reports/series that met the inclusion criteria, with a total subject sample of 310. Of these, 190 had biallelic variants, whereas 28 were affected heterozygotes. Our analysis revealed new phenotypes that have not been classically linked to the syndrome and others that have been linked but are very rare. Monoallelic symptomatic forms had less expressivity, and biallelic cases were milder if associated with EVC and/or missense variants. Finally, we identified CRMP1, a gene whose coding region partially overlaps with EVC, as a potential genetic modifier of the severity of the EVC syndrome. Conclusion: We provided the first objective clinical characterization of molecularly defined EVC syndrome and identified the first associated genetic modifier, CRMP1, which had not been implicated in human disease before. Ellis-van Creveld (EVC) syndrome is an autosomal recessive skeletal ciliopathy that was first identified in the Old Order Amish. Since its discovery, two causal genes have been identified, EVC and EVC2, showing that several cases were misdiagnosed and were, in fact, other entities. Nevertheless, there has not been any adequate phenotypic characterization of molecularly defined EVC syndrome so far. We performed a systematic review of case reports of EVC syndrome with molecular confirmation of pathogenic variants in EVC or EVC2. Demographic, genetic, and clinical information of patients was assessed. We reviewed 725 papers and obtained 54 case reports/series that met the inclusion criteria, with a total subject sample of 310. Of these, 190 had biallelic variants, whereas 28 were affected heterozygotes. Our analysis revealed new phenotypes that have not been classically linked to the syndrome and others that have been linked but are very rare. Monoallelic symptomatic forms had less expressivity, and biallelic cases were milder if associated with EVC and/or missense variants. Finally, we identified CRMP1, a gene whose coding region partially overlaps with EVC, as a potential genetic modifier of the severity of the EVC syndrome. We provided the first objective clinical characterization of molecularly defined EVC syndrome and identified the first associated genetic modifier, CRMP1, which had not been implicated in human disease before. |
| ArticleNumber | 100781 |
| Author | Da Silva, Jorge Diogo Soares, Ana Rita Tkachenko, Nataliya Fortuna, Ana Maria |
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| CitedBy_id | crossref_primary_10_1002_mgg3_2451 crossref_primary_10_1136_jmg_2023_109546 crossref_primary_10_1159_000541665 |
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| Keywords | EVC2 CRMP1 EVC Skeletal ciliopathy Ellis-van Creveld |
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| SubjectTerms | CRMP1 Ellis-van Creveld EVC EVC2 Skeletal ciliopathy Systematic Review |
| Title | Establishing an objective clinical spectrum, genotype-phenotype correlations, and CRMP1 as a modifier in the Ellis-van Creveld syndrome: The first systematic review of EVC- and EVC2-associated conditions |
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