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

Lucie ToscaLoïc DrévillonAurélie MoukaLaure LecerfAudrey BriandValérie OrtonneVirginie BenoitSophie BrissetLionel Van MaldergemQuitterie LaudouarSolveig HeideMichel GoossensIrina GiurgeaGérard TachdjianCorinne Métay

Published in: Molecular genetics & genomic medicine (2021)

Combined haploinsufficiency of GALNTL5 (alias GalNAc-T5L), CUL1, SSPO (aliases SCO-spondin, KIAA0543, and FLJ36112), AOC1 (alias DAO), RHEB, and especially KMT2C (alias KIAA1506 and HALR) with monoallelic disruption of CNTNAP2 may explain neurologic abnormalities, hypotonia, and exostoses. Haploinsufficiency of PRKAG2 (aliases AAKG, AAKG2, H91620p, WPWS, and CMH6) and KCNH2 (aliases Kv11.1, HERG, and erg1) genes may be responsible of long QT syndrome observed for one patient.

Keyphrases

case report
genome wide
drug induced
computed tomography
image quality
magnetic resonance
transcription factor
bioinformatics analysis