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Article

Further refining the critical region of 10q26 microdeletion syndrome: A possible involvement of INSYN2 and NPS in the cognitive phenotype.

European journal of medical genetics - 1 Sept 2021

Cherik Florian, Lepage Mathis, Remerand Ganaelle, Francannet Christine, Delabaere Amélie, Salaun Gaëlle, Pebrel-Richard Céline, Gouas Laetitia, Vago Philippe, Tchirkov Andrei, Goumy Carole

Abstract excerpt

BACKGROUND: The 10q26 subtelomeric microdeletion syndrome is a rare and clinically heterogeneous disorder. The precise relationships between the causative genes and the phenotype are unclear. CASE PRESENTATION: We report two new cases of 860 kb deletion of 10q26.2 identified by array CGH in a fetus with intrauterine growth retardation and his mother. The deleted region encompassed only four coding genes, DOCK1,...

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PMID: 34252586
DOI: 10.1016/j.ejmg.2021.104287

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