Expanding the spectrum of ADNP‐related disorder‐Antenatally diagnosed congenital diaphragmatic hernia and a novel de novo mutation in ADNP gene. Issue 1 (2nd November 2022)

• Record Type: Journal Article
• Authors: Asegaonkar, Prashant; Kotecha, Udhaya; Dongre, Mayuresh; Mistri, Mehul; Sharda, Sheetal
• Is Part Of: American journal of medical genetics. Volume 191:Issue 1(2023)
• Page Start: 275
• Page End: 279
• Publication Date: 2022-11-02
• Subjects: ADNP gene -- congenital diaphragmatic hernia -- de novo; Medical genetics -- Periodicals; 616.14205
• DOI: 10.1002/ajmg.a.63017
• Languages: English
• ISSNs: 1552-4825

Abstract

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.