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Phenotypic expansion of the BPTF ‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
Author(s) -
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,
Piton Amélie,
Capri Yline,
Furlan Margherita,
Gardella Elena,
Møller Rikke Steensbjerre,
Beek Irma,
Zuurbier Linda,
Lakeman Phillis,
Bayat Allan,
Martinez Julian,
Signer Rebecca,
Torring Pernille M.,
Engelund Morten Buch,
Gripp Karen W.,
AmlieWolf Louise,
Henderson Lindsay B.,
Midro Alina T.,
Tarasów Eugeniusz,
StasiewiczJarocka Beata,
MoskalJasinska Diana,
Vos Paul,
Boschann Felix,
Stoltenburg Corinna,
Puk Oliver,
Mero IngerLise,
Lossius Kristine,
Mignot Cyril,
Keren Boris,
Acosta Guio Johanna C.,
Briceño Ignacio,
Gomez Alberto,
Yang Yaping,
Stankiewicz Pawel
Publication year - 2021
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.62102
Subject(s) - haploinsufficiency , microcephaly , intellectual disability , phenotype , genetics , speech delay , neurodevelopmental disorder , bromodomain , biology , phd finger , medicine , transcription factor , gene , zinc finger , histone
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 .