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

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

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 1Udhaya Kotecha 2Mayuresh Dongre 2Mehul Mistri 2Sheetal Sharda 2

Affiliations expand

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.

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