Identification of a de novo variant in the ASXL2 gene related to Shashi-Pena syndrome.

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.Ser714

SUBMITTER: Zheng Y 

PROVIDER: S-EPMC10655504 | biostudies-literature | 2023 Nov

REPOSITORIES: biostudies-literature