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

Abstract 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 Ca...

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Autores principales:	Lucie Tosca, Loïc Drévillon, Aurélie Mouka, Laure Lecerf, Audrey Briand, Valérie Ortonne, Virginie Benoit, Sophie Brisset, Lionel Van Maldergem, Quitterie Laudouar, Solveig Heide, Michel Goossens, Irina Giurgea, Gérard Tachdjian, Corinne Métay
Formato:	article
Lenguaje:	EN
Publicado:	Wiley 2021
Materias:	7q35q36.1 array‐CGH CNTNAP2 disruption interstitial deletion KMT2C haploinsufficiency Genetics QH426-470
Acceso en línea:	https://doaj.org/article/ce89b36c62a24af3a9382758b4baf3e7
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spelling	oai:doaj.org-article:ce89b36c62a24af3a9382758b4baf3e72021-11-21T19:38:53ZTwo new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C2324-926910.1002/mgg3.1645https://doaj.org/article/ce89b36c62a24af3a9382758b4baf3e72021-11-01T00:00:00Zhttps://doi.org/10.1002/mgg3.1645https://doaj.org/toc/2324-9269Abstract 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 characterization associated with pure 7q35 and 7q35q36.1 deletion in two unrelated patients as detected by oligonucleotide‐based array‐CGH analysis. Results The common clinical features were abnormal maternal serum screening during first‐trimester pregnancy, low occipitofrontal circumference at birth, hypotonia, abnormal feet, developmental delay, impaired language development, generalized seizures, hyperactive behavior, friendly personality, and cranio‐facial dysmorphism. Both deletions occurred de novo and sequencing of CNTNAP2, a candidate gene for epilepsy and autism showed absence of mutation on the contralateral allele. Conclusion 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.Lucie ToscaLoïc DrévillonAurélie MoukaLaure LecerfAudrey BriandValérie OrtonneVirginie BenoitSophie BrissetLionel Van MaldergemQuitterie LaudouarSolveig HeideMichel GoossensIrina GiurgeaGérard TachdjianCorinne MétayWileyarticle7q35q36.1array‐CGHCNTNAP2 disruptioninterstitial deletionKMT2C haploinsufficiencyGeneticsQH426-470ENMolecular Genetics & Genomic Medicine, Vol 9, Iss 11, Pp n/a-n/a (2021)
institution	DOAJ
collection	DOAJ
language	EN
topic	7q35q36.1 array‐CGH CNTNAP2 disruption interstitial deletion KMT2C haploinsufficiency Genetics QH426-470
spellingShingle	7q35q36.1 array‐CGH CNTNAP2 disruption interstitial deletion KMT2C haploinsufficiency Genetics QH426-470 Lucie Tosca Loïc Drévillon Aurélie Mouka Laure Lecerf Audrey Briand Valérie Ortonne Virginie Benoit Sophie Brisset Lionel Van Maldergem Quitterie Laudouar Solveig Heide Michel Goossens Irina Giurgea Gérard Tachdjian Corinne Métay Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C
description	Abstract 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 characterization associated with pure 7q35 and 7q35q36.1 deletion in two unrelated patients as detected by oligonucleotide‐based array‐CGH analysis. Results The common clinical features were abnormal maternal serum screening during first‐trimester pregnancy, low occipitofrontal circumference at birth, hypotonia, abnormal feet, developmental delay, impaired language development, generalized seizures, hyperactive behavior, friendly personality, and cranio‐facial dysmorphism. Both deletions occurred de novo and sequencing of CNTNAP2, a candidate gene for epilepsy and autism showed absence of mutation on the contralateral allele. Conclusion 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.
format	article
author	Lucie Tosca Loïc Drévillon Aurélie Mouka Laure Lecerf Audrey Briand Valérie Ortonne Virginie Benoit Sophie Brisset Lionel Van Maldergem Quitterie Laudouar Solveig Heide Michel Goossens Irina Giurgea Gérard Tachdjian Corinne Métay
author_facet	Lucie Tosca Loïc Drévillon Aurélie Mouka Laure Lecerf Audrey Briand Valérie Ortonne Virginie Benoit Sophie Brisset Lionel Van Maldergem Quitterie Laudouar Solveig Heide Michel Goossens Irina Giurgea Gérard Tachdjian Corinne Métay
author_sort	Lucie Tosca
title	Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C
title_short	Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C
title_full	Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C
title_fullStr	Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C
title_full_unstemmed	Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C
title_sort	two new cases of interstitial 7q35q36.1 deletion including cntnap2 and kmt2c
publisher	Wiley
publishDate	2021
url	https://doaj.org/article/ce89b36c62a24af3a9382758b4baf3e7
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Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2C

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