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Article

Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C.

Molecular genetics & genomic medicine - 1 Nov 2021

Tosca Lucie, Drévillon Loïc, Mouka Aurélie, Lecerf Laure, Briand Audrey, Ortonne Valérie, Benoit Virginie, Brisset Sophie, Van Maldergem Lionel, Laudouar Quitterie, Heide Solveig, Goossens Michel, Giurgea Irina, Tachdjian Gérard, Métay Corinne

Abstract excerpt

BACKGROUND: Terminal deletions of the long arm of chromosome 7 are well known and frequently associated with syndromic holoprosencephaly due to the involvement of the SHH (aliases HHG1, SMMCI, TPT, TPTPS, and MCOPCB5) gene region. However, interstitial deletions including CNTNAP2 (aliases Caspr2, KIAA0868, and NRXN4) and excluding the SHH region are less common. METHODS: We report the clinical and molecular...

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PMID: 34582124
DOI: 10.1002/mgg3.1645
PMCID: PMC8606216

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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