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Article

A patient with mosaic USP9X gene variant.

European journal of medical genetics - 1 Dec 2022

Barili Valeria, Dall'Asta Andrea, Uliana Vera, Schera Giovanni Battista Luca, Ormitti Francesca, Romanini Enzo, Micalizzi Alessia, Magliozzi Monia, Perrino Daniele, Novelli Antonio, Ghi Tullio, Percesepe Antonio

Abstract excerpt

The finding of USP9X variants in females has been associated with female-restricted X-linked mental retardation (MRXS99F), a rare syndrome featured by developmental delay and distinct congenital anomalies. Here, we report a female fetus with MRXS99F due to a novel frameshift variant, c.6679_6685delAAATTATinsTCCTG (p.Lys2227SerfsTer2) in USP9X, which was present in a mosaic state in the amniocytes and in the...

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PMID: 36216272
DOI: 10.1016/j.ejmg.2022.104638

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