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