Phenotypic expansion of the BPTF ‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies - Sorbonne Université Access content directly
Journal Articles American Journal of Medical Genetics Part A Year : 2021

Phenotypic expansion of the BPTF ‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies

Kevin E Glinton
Anna C E Hurst
Kevin M Bowling
  • Function : Author
Ingrid Cristian
  • Function : Author
Devon Haynes
Dusit Adstamongkonkul
  • Function : Author
Oskar Schnappauf
  • Function : Author
David B Beck
  • Function : Author
Carole Brewer
  • Function : Author
Aditi Shah Parikh
  • Function : Author
Deepali N Shinde
  • Function : Author
Alan Donaldson
  • Function : Author
Ariel Brautbar
  • Function : Author
Saskia Koene
Arie van Haeringen
  • Function : Author
Margherita Furlan
  • Function : Author
Elena Gardella
  • Function : Author
Rikke Steensbjerre Møller
  • Function : Author
Irma van de Beek
  • Function : Author
Linda Zuurbier
  • Function : Author
Phillis Lakeman
  • Function : Author
Allan Bayat
Julian Martinez
Rebecca Signer
  • Function : Author
Pernille M Torring
  • Function : Author
Morten Buch Engelund
  • Function : Author
Karen W Gripp
  • Function : Author
Louise Amlie‐wolf
Lindsay B Henderson
  • Function : Author
Alina T Midro
Eugeniusz Tarasów
  • Function : Author
Beata Stasiewicz-Jarocka
  • Function : Author
Diana Moskal-Jasinska
  • Function : Author
Paul Vos
  • Function : Author
Felix Boschann
Corinna Stoltenburg
  • Function : Author
Oliver Puk
  • Function : Author
Inger‐lise Mero
  • Function : Author
Kristine Lossius
  • Function : Author
Boris Keren
  • Function : Author
Johanna C Acosta Guio
  • Function : Author
Ignacio Briceño
  • Function : Author
Alberto Gomez
  • Function : Author
Yaping Yang
  • Function : Author
Pawel Stankiewicz

Abstract

Abstract 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 .
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hal-04501201 , version 1 (12-03-2024)

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Kevin E Glinton, Anna C E Hurst, Kevin M Bowling, Ingrid Cristian, Devon Haynes, et al.. Phenotypic expansion of the BPTF ‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies. American Journal of Medical Genetics Part A, 2021, 185 (5), pp.1366-1378. ⟨10.1002/ajmg.a.62102⟩. ⟨hal-04501201⟩
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