Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
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2021-01-31Autore
Glinton, Kevin E.Hurst, Anna C. E.
Bowling, Kevin M.
Cristian, Ingrid
Haynes, Devon
Adstamongkonkul, Dusit
Schnappauf, Oskar
Beck, David B.
Brewer, Carole
Parikh, Aditi Shah
Shinde, Deepali N.
Donaldson, Alan
Brautbar, Ariel
Koene, Saskia
Haeringen, Arie van
Piton, Amélie
Capri, Yline
Furlan, Margherita
Gardella, Elena
Møller, Rikke Steensbjerre
de Beek, Irma van
Zuurbier, Linda
Lakeman, Phillis
Bayat, Allan
Martinez, Julian
Signer, Rebecca
Torring, Pernille M.
Engelund, Morten Buch
Gripp, Karen W.
Amlie-Wolf, Louise
Henderson, Lindsay B.
Midro, Alina T.
Tarasów, Eugeniusz
Stasiewicz-Jarocka, Beata
Moskal-Jasinska, Diana
Vos, Paul
Boschann, Felix
Stoltenburg, Corinna
Puk, Oliver
Lise Mero, Inger
Lossius, Kristine
Mignot, Cyril
Keren, Boris
Acosta Guio, Johanna C.
Briceño Balcázar, Ignacio
Gómez, Alberto
Yang, Yaping
Stankiewicz, Pawel
Autore/i aziendale
Pontificia Universidad Javeriana. Facultad de Medicina. Instituto de Genética Humana. Grupo de investigación Instituto de Genética Humana
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Artículo de revista
ISSN
1552-4825 / 1552-4833 (Electrónico)
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Neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL), defined primarily by developmental delay/intellectual disability, speech delay, postnatal microcephaly, and dysmorphic features, is a syndrome resulting from heterozygous variants in the dosage-sensitive bromodomain PHD finger chromatin remodeler transcription factor BPTF gene. To date, only 11 individuals with NEDDFL due to de novo BPTF variants have been described. To expand the NEDDFL phenotypic spectrum, we describe the clinical features in 25 novel individuals with 20 distinct, clinically relevant variants in BPTF, including four individuals with inherited changes in BPTF. In addition to the previously described features, individuals in this cohort exhibited mild brain abnormalities, seizures, scoliosis, and a variety of ophthalmologic complications. These results further support the broad and multi-faceted complications due to haploinsufficiency of BPTF.
Link alla risorsa
https://onlinelibrary.wiley.com/doi/10.1002/ajmg.a.62102Editoriale
American Journal of Medical Genetics, Part A; Volumen 185 Número 5 , Páginas 1345 - 1637 (2021)
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