TY  - JOUR
U1  - Wissenschaftlicher Artikel
A1  - Glinton, Kevin E.
A1  - Hurst, Anna C. E.
A1  - Bowling, Kevin M.
A1  - Cristian, Ingrid
A1  - Haynes, Devon
A1  - Adstamongkonkul, Dusit
A1  - Schnappauf, Oskar
A1  - Beck, David B.
A1  - Brewer, Carole
A1  - Parikh, Aditi Shah
A1  - Shinde, Deepali N.
A1  - Donaldson, Alan
A1  - Brautbar, Ariel
A1  - Koene, Saskia
A1  - van Haeringen, Arie
A1  - Piton, Amélie
A1  - Capri, Yline
A1  - Furlan, Margherita
A1  - Gardella, Elena
A1  - Møller, Rikke Steensbjerre
A1  - van de Beek, Irma
A1  - Zuurbier, Linda
A1  - Lakeman, Phillis
A1  - Bayat, Allan
A1  - Martinez, Julian
A1  - Signer, Rebecca
A1  - Torring, Pernille M.
A1  - Engelund, Morten Buch
A1  - Gripp, Karen W.
A1  - Amlie-Wolf, Louise
A1  - Henderson, Lindsay B.
A1  - Midro, Alina T.
A1  - Tarasów, Eugeniusz
A1  - Stasiewicz-Jarocka, Beata
A1  - Moskal-Jasinska, Diana
A1  - Vos, Paul
A1  - Boschann, Felix
A1  - Stoltenburg, Corinna
A1  - Puk, Oliver
A1  - Mero, Inger-Lise
A1  - Lossius, Kristine
A1  - Mignot, Cyril
A1  - Keren, Boris
A1  - Acosta Guio, Johanna C.
A1  - Briceño, Ignacio
A1  - Gomez, Alberto
A1  - Yang, Yaping
A1  - Stankiewicz, Pawel
T1  - Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
JF  - American Journal of Medical Genetics, Part A
N2  - 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.
KW  - epilepsy
KW  - microcephaly
KW  - chromatin remodeling
Y1  - 2021
SN  - 1552-4825
SS  - 1552-4825
U6  - https://doi.org/10.1002/ajmg.a.62102
DO  - https://doi.org/10.1002/ajmg.a.62102
PM  - 33522091
VL  - 185
IS  - 5
SP  - 1366
EP  - 1378
S1  - 13
PB  - Wiley
ER  -