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...
| Main Authors: | , , , , , , , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2021-11-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.1645 |
| _version_ | 1818345237279408128 |
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| 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 |
| collection | DOAJ |
| 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. |
| first_indexed | 2024-12-13T16:59:11Z |
| format | Article |
| id | doaj.art-ce89b36c62a24af3a9382758b4baf3e7 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-12-13T16:59:11Z |
| publishDate | 2021-11-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-ce89b36c62a24af3a9382758b4baf3e72022-12-21T23:37:51ZengWileyMolecular Genetics & Genomic Medicine2324-92692021-11-01911n/an/a10.1002/mgg3.1645Two new cases of interstitial 7q35q36.1 deletion including CNTNAP2 and KMT2CLucie Tosca0Loïc Drévillon1Aurélie Mouka2Laure Lecerf3Audrey Briand4Valérie Ortonne5Virginie Benoit6Sophie Brisset7Lionel Van Maldergem8Quitterie Laudouar9Solveig Heide10Michel Goossens11Irina Giurgea12Gérard Tachdjian13Corinne Métay14Service d'Histologie, Embryologie et Cytogénétique AP‐HP. Université Paris SaclayHôpital Antoine Béclère Clamart FranceService d'Histologie, Embryologie et Cytogénétique AP‐HP. Université Paris SaclayHôpital Antoine Béclère Clamart FranceService d'Histologie, Embryologie et Cytogénétique AP‐HP. Université Paris SaclayHôpital Antoine Béclère Clamart FranceService de Biochimie et Génétique AP‐HP. Hôpitaux Universitaires Henri MondorHôpital Henri Mondor Créteil FranceService de Biochimie et Génétique AP‐HP. Hôpitaux Universitaires Henri MondorHôpital Henri Mondor Créteil FranceService de Biochimie et Génétique AP‐HP. Hôpitaux Universitaires Henri MondorHôpital Henri Mondor Créteil FranceService d'Histologie, Embryologie et Cytogénétique AP‐HP. Université Paris SaclayHôpital Antoine Béclère Clamart FranceService d'Histologie, Embryologie et Cytogénétique AP‐HP. Université Paris SaclayHôpital Antoine Béclère Clamart FranceCentre de Génétique Humaine Université de Franche‐Comté Besançon FranceService de Réanimation Néonatale AP‐HP. Université Paris SaclayHôpital Bicêtre Le Kremlin‐Bicêtre FranceUF Génétique Clinique AP‐HP. Sorbonne UniversitéHôpital universitaire Pitié‐Salpêtrière Paris FranceService de Biochimie et Génétique AP‐HP. Hôpitaux Universitaires Henri MondorHôpital Henri Mondor Créteil FranceDépartement de Génétique Médicale INSERM Childhood Genetic DiseasesAP‐HP. Sorbonne UniversitéHôpital Trousseau Paris FranceService d'Histologie, Embryologie et Cytogénétique AP‐HP. Université Paris SaclayHôpital Antoine Béclère Clamart FranceService de Biochimie et Génétique AP‐HP. Hôpitaux Universitaires Henri MondorHôpital Henri Mondor Créteil FranceAbstract 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.https://doi.org/10.1002/mgg3.16457q35q36.1array‐CGHCNTNAP2 disruptioninterstitial deletionKMT2C haploinsufficiency |
| spellingShingle | 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 Molecular Genetics & Genomic Medicine 7q35q36.1 array‐CGH CNTNAP2 disruption interstitial deletion KMT2C haploinsufficiency |
| title | 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_short | 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 |
| topic | 7q35q36.1 array‐CGH CNTNAP2 disruption interstitial deletion KMT2C haploinsufficiency |
| url | https://doi.org/10.1002/mgg3.1645 |
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