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Review
. 2020 Dec;63(12):104072.
doi: 10.1016/j.ejmg.2020.104072. Epub 2020 Sep 25.

Phenotypic spectrum of SHANK2-related neurodevelopmental disorder

Roseline Caumes  1 , Thomas Smol  2 , Caroline Thuillier  3 , Marie Balerdi  4 , Catherine Lestienne-Roche  5 , Sylvie Manouvrier-Hanu  6 , Jamal Ghoumid  7
Affiliations
Review

Phenotypic spectrum of SHANK2-related neurodevelopmental disorder

Roseline Caumes et al. Eur J Med Genet. 2020 Dec.

Abstract

SHANK2 code a scaffolding protein located at the postsynaptic membrane of glutamatergic neurons. To date, only nine patients were reported with a SHANK2-variation or microdeletion. Molecular anomalies were identified through screening of large cohorts of patients, but only poor patient clinical descriptions were available. However, this information is crucial for patient care. Here, we describe two additional unrelated patients carrying a SHANK2 de novo variant, improving the delineation of the condition. Phenotypic analysis of these 11 patients identified as major features of the condition: mild to moderate intellectual disability, speech delay, poor language skills, and autism spectrum disorders.

Keywords: Autism spectrum disorders; Intellectual disability; Language impairment; SHANK2.

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