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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Authors: | Prashant Asegaonkar Udhaya Kotecha Mayuresh Dongre Mehul Mistri Sheetal Sharda |
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Institution: | 1. Garbhankur Fetal Medicine Centre, Aurangabad, India;2. Neuberg Centre for Genomic Medicine, Ahmedabad, India |
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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. |
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Keywords: | ADNP gene congenital diaphragmatic hernia de novo |
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