Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy
The classic Rubinstein–Taybi syndrome Type 1 (RSTS1, OMIM 180849) is caused by heterozygous mutations or deletions of the CREBBP gene. Herein, we describe the case of a Saudi boy with chromosome 16p13.3 contiguous gene deletion syndrome (OMIM 610543) including the SLX4, DNASE1, TRAP1, and CREBBP gen...
Saved in:
| Main Authors: | , , , , , , |
|---|---|
| Format: | Article |
| Language: | English |
| Published: |
Wiley
2020-01-01
|
| Series: | Case Reports in Genetics |
| Online Access: | http://dx.doi.org/10.1155/2020/6143050 |
| Tags: |
Add Tag
No Tags, Be the first to tag this record!
|
| _version_ | 1849408852354662400 |
|---|---|
| author | Mohammad M. Al-Qattan Zuhair A. Rahbeeni Zuhair N. Al-Hassnan Abdulaziz Jarman Atif Rafique Nehal Mahabbat Faris A. S. Alsufayan |
| author_facet | Mohammad M. Al-Qattan Zuhair A. Rahbeeni Zuhair N. Al-Hassnan Abdulaziz Jarman Atif Rafique Nehal Mahabbat Faris A. S. Alsufayan |
| author_sort | Mohammad M. Al-Qattan |
| collection | DOAJ |
| description | The classic Rubinstein–Taybi syndrome Type 1 (RSTS1, OMIM 180849) is caused by heterozygous mutations or deletions of the CREBBP gene. Herein, we describe the case of a Saudi boy with chromosome 16p13.3 contiguous gene deletion syndrome (OMIM 610543) including the SLX4, DNASE1, TRAP1, and CREBBP genes, but presenting with a relatively mild RSTS1 syndrome phenotype. Compared with previously reported cases with severe phenotypes associated with 16p13.3 contiguous gene deletions, our patient had partial deletion of the CREBBP gene (with a preserved 5′ region), which might explain his relatively mild phenotype. |
| format | Article |
| id | doaj-art-7f2bab9d542c4cbf9e7832fbf2273c32 |
| institution | Kabale University |
| issn | 2090-6544 2090-6552 |
| language | English |
| publishDate | 2020-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Genetics |
| spelling | doaj-art-7f2bab9d542c4cbf9e7832fbf2273c322025-08-20T03:35:40ZengWileyCase Reports in Genetics2090-65442090-65522020-01-01202010.1155/2020/61430506143050Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi BoyMohammad M. Al-Qattan0Zuhair A. Rahbeeni1Zuhair N. Al-Hassnan2Abdulaziz Jarman3Atif Rafique4Nehal Mahabbat5Faris A. S. Alsufayan6Division of Plastic Surgery, King Saud University, Riyadh, Saudi ArabiaDepartment of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi ArabiaDepartment of Medical Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi ArabiaDivision of Plastic Surgery, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi ArabiaDivision of Plastic Surgery, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi ArabiaDivision of Plastic Surgery, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi ArabiaPrince Mohammed Bin Abdulaziz Hospital, Riyadh, Saudi ArabiaThe classic Rubinstein–Taybi syndrome Type 1 (RSTS1, OMIM 180849) is caused by heterozygous mutations or deletions of the CREBBP gene. Herein, we describe the case of a Saudi boy with chromosome 16p13.3 contiguous gene deletion syndrome (OMIM 610543) including the SLX4, DNASE1, TRAP1, and CREBBP genes, but presenting with a relatively mild RSTS1 syndrome phenotype. Compared with previously reported cases with severe phenotypes associated with 16p13.3 contiguous gene deletions, our patient had partial deletion of the CREBBP gene (with a preserved 5′ region), which might explain his relatively mild phenotype.http://dx.doi.org/10.1155/2020/6143050 |
| spellingShingle | Mohammad M. Al-Qattan Zuhair A. Rahbeeni Zuhair N. Al-Hassnan Abdulaziz Jarman Atif Rafique Nehal Mahabbat Faris A. S. Alsufayan Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy Case Reports in Genetics |
| title | Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy |
| title_full | Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy |
| title_fullStr | Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy |
| title_full_unstemmed | Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy |
| title_short | Chromosome 16p13.3 Contiguous Gene Deletion Syndrome including the SLX4, DNASE1, TRAP1, and CREBBP Genes Presenting as a Relatively Mild Rubinstein–Taybi Syndrome Phenotype: A Case Report of a Saudi Boy |
| title_sort | chromosome 16p13 3 contiguous gene deletion syndrome including the slx4 dnase1 trap1 and crebbp genes presenting as a relatively mild rubinstein taybi syndrome phenotype a case report of a saudi boy |
| url | http://dx.doi.org/10.1155/2020/6143050 |
| work_keys_str_mv | AT mohammadmalqattan chromosome16p133contiguousgenedeletionsyndromeincludingtheslx4dnase1trap1andcrebbpgenespresentingasarelativelymildrubinsteintaybisyndromephenotypeacasereportofasaudiboy AT zuhairarahbeeni chromosome16p133contiguousgenedeletionsyndromeincludingtheslx4dnase1trap1andcrebbpgenespresentingasarelativelymildrubinsteintaybisyndromephenotypeacasereportofasaudiboy AT zuhairnalhassnan chromosome16p133contiguousgenedeletionsyndromeincludingtheslx4dnase1trap1andcrebbpgenespresentingasarelativelymildrubinsteintaybisyndromephenotypeacasereportofasaudiboy AT abdulazizjarman chromosome16p133contiguousgenedeletionsyndromeincludingtheslx4dnase1trap1andcrebbpgenespresentingasarelativelymildrubinsteintaybisyndromephenotypeacasereportofasaudiboy AT atifrafique chromosome16p133contiguousgenedeletionsyndromeincludingtheslx4dnase1trap1andcrebbpgenespresentingasarelativelymildrubinsteintaybisyndromephenotypeacasereportofasaudiboy AT nehalmahabbat chromosome16p133contiguousgenedeletionsyndromeincludingtheslx4dnase1trap1andcrebbpgenespresentingasarelativelymildrubinsteintaybisyndromephenotypeacasereportofasaudiboy AT farisasalsufayan chromosome16p133contiguousgenedeletionsyndromeincludingtheslx4dnase1trap1andcrebbpgenespresentingasarelativelymildrubinsteintaybisyndromephenotypeacasereportofasaudiboy |