Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant

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Fältnamn	Indikatorer	Metadata
000		03026naa a2200433 4500
001		oai:gup.ub.gu.se/327940
003		SwePub
008		240910s2023 \| \|\|\|\|\|\|\|\|\|\|\|000 \|\|eng\|
024	7	a https://gup.ub.gu.se/publication/3279402 URI
024	7	a https://doi.org/10.1016/j.ejmg.2023.1047352 DOI
040		a (SwePub)gu
041		a eng
042		9 SwePub
072	7	a ref2 swepub-contenttype
072	7	a art2 swepub-publicationtype
100	1	a Helenius, K.4 aut
245	1 0	a Overlap between EEC and AEC syndrome and immunodeficiency in a preterm infant with a TP63 variant
264	1	b Elsevier BV,c 2023
520		a Pathogenic variants in the transcription factor TP63 gene cause a variety of clinical phenotypes, such as ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome and ankyloblepharon-ectodermal dysplasia-clefting (AEC) syndrome. Historically, TP63-related phenotypes have been divided into several syndromes based on both the clinical presentation and location of the pathogenic variant on the TP63 gene. This division is complicated by significant overlap between syndromes.Here we describe a patient with clinical characteristics of different TP63-associated syndromes (cleft lip and palate, split feet, ectropion, erosions of the skin and corneas), associated with a de novo heterozygous pathogenic variant c.1681 T>C, p.(Cys561Arg) in exon 13 of the TP63 gene. Our patient also developed enlargement of the left-sided cardiac compartments and secondary mitral insufficiency, which is a novel finding, and immune deficiency, which has only rarely been reported. The clinical course was further complicated by prematurity and very low birth weight. We illustrate the overlapping features of EEC and AEC syndrome and multidisciplinary care needed to address the various clinical challenges.
650	7	a MEDICIN OCH HÄLSOVETENSKAPx Medicinska och farmaceutiska grundvetenskaperx Medicinsk genetik0 (SwePub)301072 hsv//swe
650	7	a MEDICAL AND HEALTH SCIENCESx Basic Medicinex Medical Genetics0 (SwePub)301072 hsv//eng
653		a Infant
653		a Preterm
653		a TP63
653		a Ectodermal dysplasia
653		a Orofacial cleft
653		a Split
653		a feet
653		a Lymphopenia
700	1	a Ojala, L.4 aut
700	1	a Kainulainen, L.4 aut
700	1	a Peltonen, Sirkku,d 1964u Gothenburg University,Göteborgs universitet,Institutionen för kliniska vetenskaper, Avdelningen för dermatologi och venereologi,Institute of Clinical Sciences, Department of Dermatology and Venereology4 aut0 (Swepub:gu)xpelsi
700	1	a Hietala, M.4 aut
700	1	a Pohjola, P.4 aut
700	1	a Parikka, V.4 aut
710	2	a Göteborgs universitetb Institutionen för kliniska vetenskaper, Avdelningen för dermatologi och venereologi4 org
773	0	t European Journal of Medical Geneticsd : Elsevier BVg 66:5q 66:5x 1769-7212
856	4 8	u https://gup.ub.gu.se/publication/327940
856	4 8	u https://doi.org/10.1016/j.ejmg.2023.104735

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Av författaren/redakt...: Helenius, K.; Ojala, L.; Kainulainen, L.; Peltonen, Sirkku ...; Hietala, M.; Pohjola, P.; visa fler...; Parikka, V.; visa färre...

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