%0 Case Reports
%T Novel USP9X variant associated with syndromic intellectual disability in a female: A case study and review.
%A Meira JGC
%A Magalhães BS
%A Ferreira IBB
%A Tavares DF
%A Kobayashi GS
%A Leão EKEA
%J Am J Med Genet A
%V 185
%N 5
%D 05 2021
%M 33638286
%F 2.578
%R 10.1002/ajmg.a.62141
%X Heterozygous variants in USP9X are associated with female-restricted X-linked mental retardation (MRXS99F), a rare syndrome characterized by neurodevelopmental delay, intellectual disability (ID), and a wide variety of additional congenital anomalies. Here, we report a girl harboring a novel de novo loss-of-function variant in USP9X (c.4091delinsAG, p.Thr1364Lysfs*7), and literature review revealed novel prenatal features associated with MRXS99F, expanding the genotypic and phenotypic landscape of the syndrome. It is important to consider X-linked diseases in girls with ID and perform directed molecular investigation to provide correct diagnosis and prognosis.