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Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
Human Genetics, 142 (2023), 7; 909-925. https://doi.org/10.1007/s00439-023-02552-2
D’Onofrio, Gianluca; Accogli, Andrea; Severino, Mariasavina; Caliskan, Haluk; Kokotović, Tomislav; Blažeković, Antonela; Gotovac Jerčić, Kristina; Markovic, Silvana; Žigman, Tamara; Goran, Krnjak; Barišić, Nina; Duranovic, Vlasta; Ban, Ana; Borovečki, Fran; Petković Ramadža, Danijela; Barić, Ivo; Fazeli, Walid; Herkenrath, Peter; Marini, Carla; Vittorini, Roberta; Gowda, Vykuntaraju; Bouman, Arjan; Rocca, Clarissa; Alkhawaja, Issam Azmi; Murtaza, Bibi Nazia; Rehman, Malik Mujaddad Ur; Al Alam, Chadi; Nader, Gisele; Mancardi, Maria Margherita; Giacomini, Thea; Srivastava, Siddharth; Alvi, Javeria Raza; Tomoum, Hoda; Matricardi, Sara; Iacomino, Michele; Riva, Antonella; Scala, Marcello; Madia, Francesca; Pistorio, Angela; Salpietro, Vincenzo; Minetti, Carlo; Rivière, Jean-Baptiste; Srour, Myriam; Efthymiou, Stephanie; Maroofian, Reza; Houlden, Henry; Vernes, Sonja Catherine; Zara, Federico; Striano, Pasquale; Nagy, Vanja Više autora...

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D’Onofrio, G., Accogli, A., Severino, M., Caliskan, H., Kokotović, T., Blažeković, A. ... Nagy, V. (2023). Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder. Human Genetics, 142. (7), 909-925. doi: 10.1007/s00439-023-02552-2

D’Onofrio, Gianluca, et al. "Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder." Human Genetics, vol. 142, br. 7, 2023, str. 909-925. https://doi.org/10.1007/s00439-023-02552-2

D’Onofrio, Gianluca, Andrea Accogli, Mariasavina Severino, Haluk Caliskan, Tomislav Kokotović, Antonela Blažeković, Kristina Gotovac Jerčić, et al. "Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder." Human Genetics 142, br. 7 (2023): 909-925. https://doi.org/10.1007/s00439-023-02552-2

D’Onofrio, G., et al. (2023) 'Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder', Human Genetics, 142(7), str. 909-925. doi: 10.1007/s00439-023-02552-2

D’Onofrio G, Accogli A, Severino M, Caliskan H, Kokotović T, Blažeković A, i sur.. Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder. Human Genetics [Internet]. 14.05.2023. [pristupljeno 12.04.2024.];142(7):909-925. doi: 10.1007/s00439-023-02552-2

G. D’Onofrio, et al., "Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder", Human Genetics, vol. 142, br. 7, str. 909-925, Svibanj 2023. [Online]. Dostupno na: https://urn.nsk.hr/urn:nbn:hr:105:335918. [Citirano: 12.04.2024.]

Za citiranje koristite ovu mrežnu adresu: https://urn.nsk.hr/urn:nbn:hr:105:335918
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Naslov (engleski)Genotype–phenotype correlation in contactin-associated protein-like 2 (CNTNAP-2) developmental disorder
AutorGianluca D’Onofrio
AutorAndrea Accogli
AutorMariasavina Severino
AutorHaluk Caliskan
AutorTomislav Kokotović
AutorAntonela Blažeković
AutorKristina Gotovac Jerčić
AutorSilvana Markovic
AutorTamara Žigman
AutorKrnjak Goran
AutorNina Barišić
AutorVlasta Duranovic
AutorAna Ban
AutorFran Borovečki
AutorDanijela Petković Ramadža
AutorIvo Barić
AutorWalid Fazeli
AutorPeter Herkenrath
AutorCarla Marini
AutorRoberta Vittorini
AutorVykuntaraju Gowda
AutorArjan Bouman
AutorClarissa Rocca
AutorIssam Azmi Alkhawaja
AutorBibi Nazia Murtaza
AutorMalik Mujaddad Ur Rehman
AutorChadi Al Alam
AutorGisele Nader
AutorMaria Margherita Mancardi
AutorThea Giacomini
AutorSiddharth Srivastava
AutorJaveria Raza Alvi
AutorHoda Tomoum
AutorSara Matricardi
AutorMichele Iacomino
AutorAntonella Riva
AutorMarcello Scala
AutorFrancesca Madia
AutorAngela Pistorio
AutorVincenzo Salpietro
AutorCarlo Minetti
AutorJean-Baptiste Rivière
AutorMyriam Srour
AutorStephanie Efthymiou
AutorReza Maroofian
AutorHenry Houlden
AutorSonja Catherine Vernes
AutorFederico Zara
AutorPasquale Striano
AutorVanja Nagy
Autorova ustanovaSveučilište u Zagrebu
Medicinski fakultet
(KATEDRA ZA PEDIJATRIJU)
Znanstveno / umjetničko
područje, polje i grana		BIOMEDICINA I ZDRAVSTVO
Kliničke medicinske znanosti
Pedijatrija
Sažetak (engleski)
Contactin-associated protein-like 2 (CNTNAP2) gene encodes for CASPR2, a presynaptic type 1 transmembrane protein, involved in cell-cell adhesion and synaptic interactions. Biallelic CNTNAP2 loss has been associated with "Pitt-Hopkins-like syndrome-1" (MIM#610042), while the pathogenic role of heterozygous variants remains controversial. We report 22 novel patients harboring mono- (n = 2) and bi-allelic (n = 20) CNTNAP2 variants and carried out a literature review to characterize the genotype-phenotype correlation. Patients (M:F 14:8) were aged between 3 and 19 years and affected by global developmental delay (GDD) (n = 21), moderate to profound intellectual disability (n = 17) and epilepsy (n = 21). Seizures mainly started in the first two years of life (median 22.5 months). Antiseizure medications were successful in controlling the seizures in about two-thirds of the patients. Autism spectrum disorder (ASD) and/or other neuropsychiatric comorbidities were present in nine patients (40.9%). Nonspecific midline brain anomalies were noted in most patients while focal signal abnormalities in the temporal lobes were noted in three subjects. Genotype-phenotype correlation was performed by also including 50 previously published patients (15 mono- and 35 bi-allelic variants). Overall, GDD (p < 0.0001), epilepsy (p < 0.0001), hyporeflexia (p = 0.012), ASD (p = 0.009), language impairment (p = 0.020) and severe cognitive impairment (p = 0.031) were significantly associated with the presence of biallelic versus monoallelic variants. We have defined the main features associated with biallelic CNTNAP2 variants, as severe cognitive impairment, epilepsy and behavioral abnormalities. We propose CASPR2-deficiency neurodevelopmental disorder as an exclusively recessive disease while the contribution of heterozygous variants is less likely to follow an autosomal dominant inheritance pattern.
Ključne riječi (engleski)
Jezikengleski
Vrsta publikacijeZnanstveni rad - Pregledni rad
Status objaveObjavljen
Vrsta recenzijeRecenziran
Verzija publikacijeObjavljena verzija rada (izdavačev PDF)
Naslov časopisaHuman Genetics
Brojčani podacivol. 142, br. 7, str. 909-925
p-ISSN0340-6717
e-ISSN1432-1203
DOIhttps://doi.org/10.1007/s00439-023-02552-2
URN:NBNurn:nbn:hr:105:335918
Datum objave publikacije2023-05-14
URL dokumentahttps://link.springer.com/10.1007/s00439-023-02552-2
Vrsta resursaTekst
Prava pristupaOtvoreni pristup
Uvjeti korištenjaIkona licence Imenovanje 4.0 međunarodna (CC BY 4.0)
Datum i vrijeme pohrane2023-10-27 08:58:07