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...

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Bibliographic Details
Published inCase reports in genetics Vol. 2020; no. 2020; pp. 1 - 5
Main Authors Alsufayan, Faris A. S., Rafique, Atif, Jarman, Abdulaziz, Al-Hassnan, Zuhair N., Rahbeeni, Zuhair A., al-Qattan, Mohammad M., Mahabbat, Nehal
Format Journal Article
LanguageEnglish
Published Cairo, Egypt Hindawi Publishing Corporation 2020
Hindawi
John Wiley & Sons, Inc
Hindawi Limited
Subjects
Case Report
Genes
Genetic aspects
Saudi Arabia
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Summary: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.
Bibliography:Academic Editor: Christos Yapijakis
ISSN:2090-6544
2090-6552
DOI:10.1155/2020/6143050