Dataset Information
Identification of a de novo variant in the ASXL2 gene related to Shashi-Pena syndrome.
Ontology highlight
ABSTRACT: Background
ASXL2 encodes proteins involved in epigenetic regulation and the assembly of transcription factors at specific genomic loci. Germline de novo truncating variants in ASXL2 have been implicated in Shashi-Pena syndrome, which results in features of developmental delay (DD), glabellar nevus flammeus, hypotonia, and cardiac disorders. However, the variants are rare, and the clinical spectrum may be incomplete.Methods
The clinical data such as brain MRI were collect. The whole exome sequencing was performed for genetic etiology analysis.Results
Here, we report a patient with DD, hypotonia, early atrial septal defect, and abnormal white matter signal. She presented with Shashi-Pena syndrome with a truncated variant in ASXL2 (NM_018263.6, c.2142_2152del, p.Ser714Argfs*5). She died of a digestive tract infection when she was 1 year and 6 months old.Conclusions
Our study further expanded the spectrum of phenotypes and genetic variations of the syndrome, and we believe that it is necessary to screen the ASXL2 gene in patients with DD and cardiac and bone disorders.
SUBMITTER: Zheng Y
PROVIDER: S-EPMC10655504 | biostudies-literature | 2023 Jul
REPOSITORIES: biostudies-literature
Publications
Identification of a de novo variant in the ASXL2 gene related to Shashi-Pena syndrome.
Molecular genetics & genomic medicine 20230726 11
<h4>Background</h4>ASXL2 encodes proteins involved in epigenetic regulation and the assembly of transcription factors at specific genomic loci. Germline de novo truncating variants in ASXL2 have been implicated in Shashi-Pena syndrome, which results in features of developmental delay (DD), glabellar nevus flammeus, hypotonia, and cardiac disorders. However, the variants are rare, and the clinical spectrum may be incomplete.<h4>Methods</h4>The clinical data such as brain MRI were collect. The who ...[more]