Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature
Primrose syndrome is a rare autosomal dominant condition caused by heterozygous missense variants within ZBTB20. Through an exome sequencing approach (as part of the Deciphering Developmental Disorders [DDD] study) we have identified five unrelated individuals with previously unreported, de novo ZBT...
| Main Authors: | , , , , , , , , , , , , , |
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| Format: | Journal article |
| Language: | English |
| Published: |
Wiley
2019
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| _version_ | 1797065563081539584 |
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| author | Cleaver, RJ Berg, J Craft, E Foster, A Gibbons, RJ Hobson, E Lachlan, K Naik, S Sampson, JR Sharif, S Smithson, S Deciphering Developmental Disorders Study, Parker, MJ Tatton-Brown, K |
| author_facet | Cleaver, RJ Berg, J Craft, E Foster, A Gibbons, RJ Hobson, E Lachlan, K Naik, S Sampson, JR Sharif, S Smithson, S Deciphering Developmental Disorders Study, Parker, MJ Tatton-Brown, K |
| author_sort | Cleaver, RJ |
| collection | OXFORD |
| description | Primrose syndrome is a rare autosomal dominant condition caused by heterozygous missense variants within ZBTB20. Through an exome sequencing approach (as part of the Deciphering Developmental Disorders [DDD] study) we have identified five unrelated individuals with previously unreported, de novo ZBTB20 pathogenic missense variants. All five missense variants targeted the C2H2 zinc finger domains. This genotype-up approach has allowed further refinement of the Primrose syndrome phenotype. Major characteristics (>90% individuals) include an intellectual disability (most frequently in the moderate range), a recognizable facial appearance and brain MRI abnormalities, particularly abnormalities of the corpus callosum. Other frequent clinical associations (in 50-90% individuals) include sensorineural hearing loss (83%), hypotonia (78%), cryptorchidism in males (75%), macrocephaly (72%), behavioral issues (56%), and dysplastic/hypoplastic nails (57%). Based upon these clinical data we discuss our current management of patients with Primrose syndrome. |
| first_indexed | 2024-03-06T21:30:24Z |
| format | Journal article |
| id | oxford-uuid:448347c3-5f6a-416b-b5e3-fed3f188d2e2 |
| institution | University of Oxford |
| language | English |
| last_indexed | 2024-03-06T21:30:24Z |
| publishDate | 2019 |
| publisher | Wiley |
| record_format | dspace |
| spelling | oxford-uuid:448347c3-5f6a-416b-b5e3-fed3f188d2e22022-03-26T15:01:58ZRefining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literatureJournal articlehttp://purl.org/coar/resource_type/c_dcae04bcuuid:448347c3-5f6a-416b-b5e3-fed3f188d2e2EnglishSymplectic Elements at OxfordWiley2019Cleaver, RJBerg, JCraft, EFoster, AGibbons, RJHobson, ELachlan, KNaik, SSampson, JRSharif, SSmithson, SDeciphering Developmental Disorders Study,Parker, MJTatton-Brown, KPrimrose syndrome is a rare autosomal dominant condition caused by heterozygous missense variants within ZBTB20. Through an exome sequencing approach (as part of the Deciphering Developmental Disorders [DDD] study) we have identified five unrelated individuals with previously unreported, de novo ZBTB20 pathogenic missense variants. All five missense variants targeted the C2H2 zinc finger domains. This genotype-up approach has allowed further refinement of the Primrose syndrome phenotype. Major characteristics (>90% individuals) include an intellectual disability (most frequently in the moderate range), a recognizable facial appearance and brain MRI abnormalities, particularly abnormalities of the corpus callosum. Other frequent clinical associations (in 50-90% individuals) include sensorineural hearing loss (83%), hypotonia (78%), cryptorchidism in males (75%), macrocephaly (72%), behavioral issues (56%), and dysplastic/hypoplastic nails (57%). Based upon these clinical data we discuss our current management of patients with Primrose syndrome. |
| spellingShingle | Cleaver, RJ Berg, J Craft, E Foster, A Gibbons, RJ Hobson, E Lachlan, K Naik, S Sampson, JR Sharif, S Smithson, S Deciphering Developmental Disorders Study, Parker, MJ Tatton-Brown, K Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature |
| title | Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature |
| title_full | Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature |
| title_fullStr | Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature |
| title_full_unstemmed | Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature |
| title_short | Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature |
| title_sort | refining the primrose syndrome phenotype a study of five patients with zbtb20 de novo variants and a review of the literature |
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