A Novel GATAD2B Frameshift Variant Causes GATAD2B-Associated Neurodevelopmental Disorder with Camptodactyly
We describe the first patient with GAND from Southeast Asia with Korean-Chinese parentage. The identification of a pathogenic variant in <i>GATAD2B</i> clarifies her diagnosis and adds to the genotypic and phenotypic spectrum of this disorder. This report illustrates the use of genetic testing to obtain a definite diagnosis.
Authors
- Saumya Shekhar Jamuar (ORCID: https://orcid.org/0000-0003-2341-8349)
- Khadijah Rafi’ee (ORCID: https://orcid.org/0000-0003-3749-2814)
- Jiin Ying Lim (ORCID: https://orcid.org/0000-0003-3253-2768)
- Ene‐Choo Tan (ORCID: https://orcid.org/0000-0001-5497-6058)
- Carmen Tan
- Benjamin Chang
- Jeannette Goh
- Chew Thye Choong
- Sing Ming Chao
Institutions
- SingHealth Duke-NUS Academic Medical Centre (SG)
- KK Women's and Children's Hospital (SG)
Publication Details
- Journal
- Molecular Syndromology
- Published
- 2025-04-02
- DOI
- https://doi.org/10.1159/000545445
- Citations
- 1
- Primary Topic
- Congenital heart defects research
- Type
- article
- Field-Weighted Citation Impact
- 0.81