Am J Med Genet A

. 2022 Nov 2.

 doi: 10.1002/ajmg.a.63017. Online ahead of print. https://pubmed.ncbi.nlm.nih.gov/36321748/

Expanding the spectrum of ADNP-related disorder-Antenatally diagnosed congenital diaphragmatic hernia and a novel de novo mutation in ADNP gene

Prashant Asegaonkar ¹, Udhaya Kotecha ², Mayuresh Dongre ², Mehul Mistri ², Sheetal Sharda ²

Affiliations expand

• PMID: 36321748
• DOI: 10.1002/ajmg.a.63017

Abstract

De novo heterozygous ADNP variants have been associated with a complex neurological phenotype characterized primarily by neurodevelopmental delay. Cardiac and renal anomalies have additionally been observed in a few patients. All reported cases to date have been ascertained postnatally. Congenital diaphragmatic hernia (CDH) has been previously observed in one child diagnosed with a de novo ADNP-related neurodevelopmental disorder. We report a fetus who presented with syndromic CDH associated with a de novo heterozygous ADNP variant.

Keywords: ADNP gene; congenital diaphragmatic hernia; de novo.

© 2022 Wiley Periodicals LLC.