2019
DOI: 10.3390/ijms20246247
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Novel JAG1 Deletion Variant in Patient with Atypical Alagille Syndrome

Abstract: A.A.A.); Mario.carminati@grupposandonato.it (M.C.);Abstract: Alagille syndrome (AGS) is an autosomal-dominant disorder characterized by various degrees of abnormalities in the liver, heart, eyes, vertebrae, kidneys, face, vasculature, skeleton, and pancreas. This case report describes a newborn child exhibiting a congenital neural tube defect and peculiar craniofacial appearance characterized by a prominent forehead, deep-set eyes, bulbous nasal tip, and subtle upper lip. Just a few hours after birth, congenit… Show more

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Cited by 15 publications
(16 citation statements)
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References 31 publications
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“…The following references appear in the Supplemental Information: Bao and Jin, 2006 , Byrd and Meyers, 2005 , Chen et al., 2012 , Chen et al., 2014 , Coles et al., 2006 , Dixon et al., 1994 , Duprez et al., 1999 , Fukumoto et al., 2006 , Gammill et al., 2006 , Gopinathan et al., 2019 , Hargrave et al., 1997 , Hill et al., 2014 , Huang et al., 2016 , Humphreys et al., 2012 , Jia et al., 2016 , Kamalakar et al., 2019 , Li et al., 2009 , Li et al., 2018 , Micaglio et al., 2019 , Nikopoulos et al., 2007 , Parada et al., 2015 , Pilia et al., 1999 , Roosenboom et al., 2018 , Sela-Donenfeld and Kalcheim, 1999 , Shin et al., 2012 , Sock et al., 2004 , Teng et al., 2017 , Toyofuku et al., 2008 , Wang and Astrof, 2016 , Wu and Taneyhill, 2012 , Yen et al., 2010 , York et al., 2018 , Yu and Moens, 2005 , Zhang et al., 2016 , Zhu et al., 2019 , Zuniga et al., 2010 .…”
Section: Supporting Citationsmentioning
confidence: 99%
“…The following references appear in the Supplemental Information: Bao and Jin, 2006 , Byrd and Meyers, 2005 , Chen et al., 2012 , Chen et al., 2014 , Coles et al., 2006 , Dixon et al., 1994 , Duprez et al., 1999 , Fukumoto et al., 2006 , Gammill et al., 2006 , Gopinathan et al., 2019 , Hargrave et al., 1997 , Hill et al., 2014 , Huang et al., 2016 , Humphreys et al., 2012 , Jia et al., 2016 , Kamalakar et al., 2019 , Li et al., 2009 , Li et al., 2018 , Micaglio et al., 2019 , Nikopoulos et al., 2007 , Parada et al., 2015 , Pilia et al., 1999 , Roosenboom et al., 2018 , Sela-Donenfeld and Kalcheim, 1999 , Shin et al., 2012 , Sock et al., 2004 , Teng et al., 2017 , Toyofuku et al., 2008 , Wang and Astrof, 2016 , Wu and Taneyhill, 2012 , Yen et al., 2010 , York et al., 2018 , Yu and Moens, 2005 , Zhang et al., 2016 , Zhu et al., 2019 , Zuniga et al., 2010 .…”
Section: Supporting Citationsmentioning
confidence: 99%
“…Un pequeño porcentaje de pacientes presentan mutaciones en el gen NOTCH2 (SA de tipo II), ubicado en el cromosoma 1p12.8 [1][2][3][5][6][7] . Ambos genes codifican proteínas implicadas en la vía de señalización NOTCH, las cuales cumplen un papel importante en la determinación del destino celular 6,8,9 . Su mutación genera una regulación negativa en los colangiocitos, hepatocitos y células mesenquimatosas y alteraciones en el desarrollo.…”
Section: Comentariosunclassified
“…Nuestro paciente presentó cuatro criterios clásicos (sin anomalías vertebrales). Otros hallazgos, considerados criterios menores, son: xantomas, retraso del crecimiento, retardo mental, pubertad tardía, alteraciones renales, anomalías óseas, insuficiencia pancreática, anomalías vasculares, hipogonadismo y cambios en el tono de la voz 2,[4][5][6][7][8][9][10] . Los pacientes que tienen las cinco características clásicas se definen como SA completo, mientras que aquellos con cuatro características, como en el caso comentado, tienen la forma incompleta 4,5 .…”
Section: Comentariosunclassified
“… 9 , 26 The protein encoded by JAG1 is a Delta ligand for the Notch receptor(s). 5 , 10 , 27 , 28 The protein encoded by NOTCH2 is a receptor that mediates molecular signaling between cells. 29 Mutations in these genes contribute to various systemic issues possibly due to a loss of cellular interactions.…”
mentioning
confidence: 99%
“…Early diagnosis can contribute to early interventions to prevent complications in multiple organs and better follow-up. 27 , 32 …”
mentioning
confidence: 99%