What question did this study set out to answer?

To report the clinical, electroencephalographic, and genetic characteristics of a novel de novo WAC frameshift variant in a pediatric patient with DeSanto-Shinawi syndrome.

August 16, 2026American Journal of Medical Genetics Part A

A Novel de Novo WAC Frameshift Variant in DeSanto– Shinawi Syndrome With Temporo‐Occipital Epileptiform Activity and Congenital Cardiac Anomalies

View Full Paper

Ask AI

Bookmark

Authors

BYBurak YavuzTrakya University SUSoner UzunTrakya University AKAyhan KütükçüTrakya University

Discussion

Member takes

Implication

Case report demonstrates a novel de novo WAC frameshift variant with temporo-occipital epilepsy and heart defects in a child, highlighting the multisystem spectrum of DeSanto-Shinawi syndrome.

Key Points

To report the clinical, electroencephalographic, and genetic characteristics of a novel de novo WAC frameshift variant in a pediatric patient with DeSanto-Shinawi syndrome.
Evaluated a 9-year-old male with developmental delay, dysmorphic facial features, behavioral abnormalities, epilepsy, and congenital heart defects using brain MRI and serial electroencephalography (EEG).
Performed whole-exome sequencing with variant classification according to standard ACMG/AMP criteria.
Whole-exome sequencing identified a novel heterozygous de novo frameshift variant in WAC (NM_016628.5:c.1793delT; p.Met598Serfs*8) predicted to cause loss of function via haploinsufficiency.
Serial EEG demonstrated persistent epileptiform activity in the bilateral and left temporo-occipital regions despite a normal brain MRI, co-occurring with a ventricular septal defect and bicuspid aortic valve.

Cite This Study

Yavuz et al. (2026) studied this question.

synapsesocial.com/papers/6a819d36f2fb91fc834aed63 https://doi.org/10.1002/ajmg.a.70274

View Full Paper

Ask AI

Bookmark

Implication

Case report demonstrates a novel de novo WAC frameshift variant with temporo-occipital epilepsy and heart defects in a child, highlighting the multisystem spectrum of DeSanto-Shinawi syndrome.

A Novel de Novo WAC Frameshift Variant in DeSanto– Shinawi Syndrome With Temporo‐Occipital Epileptiform Activity and Congenital Cardiac Anomalies

Discussion

Member takes

Implication

Key Points

Cite This Study

A Novel de Novo WAC Frameshift Variant in DeSanto– Shinawi Syndrome With Temporo‐Occipital Epileptiform Activity and Congenital Cardiac Anomalies

Discussion

Member takes

Implication

Key Points

Cite This Study

Also Consider

Also Consider