Pathogenic variants in USP7 cause a neurodevelopmental disorder with speech delays, altered behavior, and neurologic anomalies.
Обработка статьи · этапы, ошибки и управление
Ошибки и ограничения
История · было → стало
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Fountain Michael D, Oleson David S, Rech Megan E, Segebrecht Lara, Hunter Jill V, McCarthy John M, Lupo Philip J, Holtgrewe Manuel, Moran Rocio, Rosenfeld Jill A, Isidor Bertrand, Le Caignec Cédric, Saenz Margarita S, Pedersen Robert C, Morgan Thomas M, Pfotenhauer Jean P, Xia Fan, Bi Weimin, Kang Sung-Hae L, Patel Ankita, Krantz Ian D, Raible Sarah E, Smith Wendy, Cristian Ingrid, Torti Erin, Juusola Jane, Millan Francisca, Wentzensen Ingrid M, Person Richard E, Küry Sébastien, Bézieau Stéphane, Uguen Kévin, Férec Claude, Munnich Arnold, van Haelst Mieke, Lichtenbelt Klaske D, van Gassen Koen, Hagelstrom Tanner, Chawla Aditi, Perry Denise L, Taft Ryan J, Jones Marilyn, Masser-Frye Diane, Dyment David, Venkateswaran Sunita, Li Chumei, Escobar Luis F, Horn Denise, Spillmann Rebecca C, Peña Loren, Wierzba Jolanta, Strom Tim M, Parenti Ilaria, Kaiser Frank J, Ehmke Nadja, Schaaf Christian P
Аннотация
METHODS: We report 16 newly identified individuals with heterozygous USP7 variants, identified by genome or exome sequencing or by chromosome microarray analysis. Clinical features were evaluated by review of medical records. Additional clinical information was obtained on the seven previously reported individuals to fully elucidate the phenotypic expression associated with USP7 haploinsufficiency.
RESULTS: The clinical manifestations of these 23 individuals suggest a syndrome characterized by DD/ID, hypotonia, eye anomalies,feeding difficulties, GERD, behavioral anomalies, and ASD, and more specific phenotypes of speech delays including a nonverbal phenotype and abnormal brain magnetic resonance image findings including white matter changes based on neuroradiologic examination.
CONCLUSION: The consistency of clinical features among all individuals presented regardless of de novo USP7 variant type supports haploinsufficiency as a mechanism for pathogenesis and refines the clinical impact faced by affected individuals and caregivers.