Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial Deletion
We describe an 8-year-old boy with developmental delay, clinical bilateral radial ulnar synostosis, Klippel-Feil anomaly, and other vertebral deformities who was found to have a de novo deletion of 114.5kb at 16p13.3. The deletion contains five genes and three miRNAs. The genes are E4F1, DNASE1L2, E...
Saved in:
| Main Authors: | , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2013-01-01
|
| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2013/149085 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1832568093222633472 |
|---|---|
| author | Allison Tam Kit Shan Lee Sansan Lee William Burkhalter Lucio U. Pascua Thomas P. Slavin |
| author_facet | Allison Tam Kit Shan Lee Sansan Lee William Burkhalter Lucio U. Pascua Thomas P. Slavin |
| author_sort | Allison Tam |
| collection | DOAJ |
| description | We describe an 8-year-old boy with developmental delay, clinical bilateral radial ulnar synostosis, Klippel-Feil anomaly, and other vertebral deformities who was found to have a de novo deletion of 114.5kb at 16p13.3. The deletion contains five genes and three miRNAs. The genes are E4F1, DNASE1L2, ECI1, RNPS1, and ABCA3; miRNAs are MIR3677, MIR940, and MIR4717. The specific deletion has never been previously reported. We describe the phenotype of the boy and review the genes in the deleted region. None of the regulatory elements have any known linkage to skeletal formation and/or maintenance. We believe this deletion is causative given that it was de novo and that this patient cannot be easily explained as having any other specific recognizable pattern of human malformation. |
| format | Article |
| id | doaj-art-9a174dc453704697a15fbaf5d82c206e |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2013-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-9a174dc453704697a15fbaf5d82c206e2025-02-03T00:59:51ZengWileyCase Reports in Genetics2090-65442090-65522013-01-01201310.1155/2013/149085149085Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial DeletionAllison Tam0Kit Shan Lee1Sansan Lee2William Burkhalter3Lucio U. Pascua4Thomas P. Slavin5University of Hawaii, John A. Burns School of Medicine, Honolulu, HI 96813, USAUniversity of Hawaii, John A. Burns School of Medicine, Honolulu, HI 96813, USAKapiolani Medical Specialists, Hawaii Community Genetics, Honolulu, HI 96814, USADepartment of Pediatrics, University of Hawaii, John A. Burns School of Medicine, Honolulu, HI 96826, USADepartment of Family Medicine, University of Hawaii, John A. Burns School of Medicine, Honolulu, HI 96789, USAKapiolani Medical Specialists, Hawaii Community Genetics, Honolulu, HI 96814, USAWe describe an 8-year-old boy with developmental delay, clinical bilateral radial ulnar synostosis, Klippel-Feil anomaly, and other vertebral deformities who was found to have a de novo deletion of 114.5kb at 16p13.3. The deletion contains five genes and three miRNAs. The genes are E4F1, DNASE1L2, ECI1, RNPS1, and ABCA3; miRNAs are MIR3677, MIR940, and MIR4717. The specific deletion has never been previously reported. We describe the phenotype of the boy and review the genes in the deleted region. None of the regulatory elements have any known linkage to skeletal formation and/or maintenance. We believe this deletion is causative given that it was de novo and that this patient cannot be easily explained as having any other specific recognizable pattern of human malformation.http://dx.doi.org/10.1155/2013/149085 |
| spellingShingle | Allison Tam Kit Shan Lee Sansan Lee William Burkhalter Lucio U. Pascua Thomas P. Slavin Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial Deletion Case Reports in Genetics |
| title | Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial Deletion |
| title_full | Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial Deletion |
| title_fullStr | Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial Deletion |
| title_full_unstemmed | Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial Deletion |
| title_short | Bilateral Radial Ulnar Synostosis and Vertebral Anomalies in a Child with a De Novo 16p13.3 Interstitial Deletion |
| title_sort | bilateral radial ulnar synostosis and vertebral anomalies in a child with a de novo 16p13 3 interstitial deletion |
| url | http://dx.doi.org/10.1155/2013/149085 |
| work_keys_str_mv | AT allisontam bilateralradialulnarsynostosisandvertebralanomaliesinachildwithadenovo16p133interstitialdeletion AT kitshanlee bilateralradialulnarsynostosisandvertebralanomaliesinachildwithadenovo16p133interstitialdeletion AT sansanlee bilateralradialulnarsynostosisandvertebralanomaliesinachildwithadenovo16p133interstitialdeletion AT williamburkhalter bilateralradialulnarsynostosisandvertebralanomaliesinachildwithadenovo16p133interstitialdeletion AT lucioupascua bilateralradialulnarsynostosisandvertebralanomaliesinachildwithadenovo16p133interstitialdeletion AT thomaspslavin bilateralradialulnarsynostosisandvertebralanomaliesinachildwithadenovo16p133interstitialdeletion |