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Research: Expanding the clinical spectrum of pathogenic variation in NR2F2: Asplenia

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Research: Expanding the clinical spectrum of pathogenic variation in NR2F2: Asplenia

Eur J Med Genet

. 2021 Oct 4;104347. doi: 10.1016/j.ejmg.2021.104347. Online ahead of print. https://pubmed.ncbi.nlm.nih.gov/34619368/

Expanding the clinical spectrum of pathogenic variation in NR2F2: Asplenia

Todor Arsov 1Jadranka Kelecic 2Sanda Huljev Frkovic 2Mario Sestan 2Nastasia Kifer 2Dan Andrews 3Marcin Adamski 3Marija Jelusic 2Matthew C Cook 4Affiliations expand

Abstract

We present a case with congenital syndromic asplenia associated with immune deficiency, glandular hypospadias and cryptorchidism. Genetic analysis identified a likely pathogenic de novo variant in NR2F2. Pathogenic NR2F2 variants have been associated with other congenital anomalies affecting the central axis, such as congenital heart disease and diaphragmatic hernia, which were not part of our patient’s clinical features. The association between NR2F2 and asplenia (including glandular hypospadias and cryptorchidism) has been described in animal models and our report is the first expanding the NR2F2 clinical spectrum in humans to include asplenia.

Keywords: Asplenia; COUPTFII; Congenital anomalies; Cryptorchidism; Hypospadias; NR2F2.

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