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DOI 10.1002/ajmg.a.62102

Медицинская библиотека · American journal of medical genetics. Part A · 2021

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

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, van Haeringen Arie, Piton Amélie, Capri Yline, Furlan Margherita, Gardella Elena, Møller Rikke Steensbjerre, van de Beek Irma, 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, Mero Inger-Lise, Lossius Kristine, Mignot Cyril, Keren Boris, Acosta Guio Johanna C, Briceño Ignacio, Gomez Alberto, Yang Yaping, Stankiewicz Pawel

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Аннотация

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.

Для цитирования: 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, van Haeringen Arie, Piton Amélie, Capri Yline, Furlan Margherita, Gardella Elena, Møller Rikke Steensbjerre, van de Beek Irma, 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, Mero Inger-Lise, Lossius Kristine, Mignot Cyril, Keren Boris, Acosta Guio Johanna C, Briceño Ignacio, Gomez Alberto, Yang Yaping, Stankiewicz Pawel. Phenotypic expansion of the BPTF-related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies.. American journal of medical genetics. Part A. 2021. DOI: 10.1002/ajmg.a.62102.

Предметные рубрики MeSH

Abnormalities, MultipleAdolescentAdultChildChild, PreschoolChromatin Assembly and DisassemblyChromosome DeletionDevelopmental DisabilitiesEpilepsyFaciesFemaleHaploinsufficiencyHumansInfantIntellectual DisabilityLanguage Development DisordersMaleMicrocephalyMiddle AgedNeurodevelopmental DisordersPhenotypeTranscription FactorsYoung Adult
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