Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies
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 bromodoma...
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| Veröffentlicht in: | American journal of medical genetics. Part A 2021-05, Vol.185 (5), p.1366-1378 |
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| creator | 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. 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 |
| description | 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. |
| doi_str_mv | 10.1002/ajmg.a.62102 |
| format | Article |
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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.</description><identifier>ISSN: 1552-4825</identifier><identifier>EISSN: 1552-4833</identifier><identifier>DOI: 10.1002/ajmg.a.62102</identifier><identifier>PMID: 33522091</identifier><language>eng</language><publisher>Hoboken, USA: John Wiley & Sons, Inc</publisher><subject>Chromatin ; chromatin remodeling ; Dosage ; epilepsy ; Haploinsufficiency ; Human health and pathology ; Intellectual disabilities ; Life Sciences ; microcephaly ; Microencephaly ; Neurodevelopmental disorders ; Original ; Scoliosis ; Seizures</subject><ispartof>American journal of medical genetics. Part A, 2021-05, Vol.185 (5), p.1366-1378</ispartof><rights>2021 The Authors. published by Wiley Periodicals LLC.</rights><rights>2021 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.</rights><rights>2021. 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E.</creatorcontrib><creatorcontrib>Bowling, Kevin M.</creatorcontrib><creatorcontrib>Cristian, Ingrid</creatorcontrib><creatorcontrib>Haynes, Devon</creatorcontrib><creatorcontrib>Adstamongkonkul, Dusit</creatorcontrib><creatorcontrib>Schnappauf, Oskar</creatorcontrib><creatorcontrib>Beck, David B.</creatorcontrib><creatorcontrib>Brewer, Carole</creatorcontrib><creatorcontrib>Parikh, Aditi Shah</creatorcontrib><creatorcontrib>Shinde, Deepali N.</creatorcontrib><creatorcontrib>Donaldson, Alan</creatorcontrib><creatorcontrib>Brautbar, Ariel</creatorcontrib><creatorcontrib>Koene, Saskia</creatorcontrib><creatorcontrib>Haeringen, Arie</creatorcontrib><creatorcontrib>Piton, Amélie</creatorcontrib><creatorcontrib>Capri, Yline</creatorcontrib><creatorcontrib>Furlan, Margherita</creatorcontrib><creatorcontrib>Gardella, Elena</creatorcontrib><creatorcontrib>Møller, Rikke Steensbjerre</creatorcontrib><creatorcontrib>Beek, Irma</creatorcontrib><creatorcontrib>Zuurbier, Linda</creatorcontrib><creatorcontrib>Lakeman, Phillis</creatorcontrib><creatorcontrib>Bayat, Allan</creatorcontrib><creatorcontrib>Martinez, Julian</creatorcontrib><creatorcontrib>Signer, Rebecca</creatorcontrib><creatorcontrib>Torring, Pernille M.</creatorcontrib><creatorcontrib>Engelund, Morten Buch</creatorcontrib><creatorcontrib>Gripp, Karen W.</creatorcontrib><creatorcontrib>Amlie‐Wolf, Louise</creatorcontrib><creatorcontrib>Henderson, Lindsay B.</creatorcontrib><creatorcontrib>Midro, Alina T.</creatorcontrib><creatorcontrib>Tarasów, Eugeniusz</creatorcontrib><creatorcontrib>Stasiewicz‐Jarocka, Beata</creatorcontrib><creatorcontrib>Moskal‐Jasinska, Diana</creatorcontrib><creatorcontrib>Vos, Paul</creatorcontrib><creatorcontrib>Boschann, Felix</creatorcontrib><creatorcontrib>Stoltenburg, Corinna</creatorcontrib><creatorcontrib>Puk, Oliver</creatorcontrib><creatorcontrib>Mero, Inger‐Lise</creatorcontrib><creatorcontrib>Lossius, Kristine</creatorcontrib><creatorcontrib>Mignot, Cyril</creatorcontrib><creatorcontrib>Keren, Boris</creatorcontrib><creatorcontrib>Acosta Guio, Johanna C.</creatorcontrib><creatorcontrib>Briceño, Ignacio</creatorcontrib><creatorcontrib>Gomez, Alberto</creatorcontrib><creatorcontrib>Yang, Yaping</creatorcontrib><creatorcontrib>Stankiewicz, Pawel</creatorcontrib><title>Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies</title><title>American journal of medical genetics. 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These results further support the broad and multi‐faceted complications due to haploinsufficiency of BPTF.</description><subject>Chromatin</subject><subject>chromatin remodeling</subject><subject>Dosage</subject><subject>epilepsy</subject><subject>Haploinsufficiency</subject><subject>Human health and pathology</subject><subject>Intellectual disabilities</subject><subject>Life Sciences</subject><subject>microcephaly</subject><subject>Microencephaly</subject><subject>Neurodevelopmental disorders</subject><subject>Original</subject><subject>Scoliosis</subject><subject>Seizures</subject><issn>1552-4825</issn><issn>1552-4833</issn><fulltext>true</fulltext><rsrctype>article</rsrctype><creationdate>2021</creationdate><recordtype>article</recordtype><sourceid>24P</sourceid><recordid>eNp9kctu1DAUhiMEoqWwY40isQGJGXzNZYM0VPSCBtFFWVsnttN45MSpncwwOx6BZ-RJcEg7gi5Y-XK-85_LnyQvMVpihMh72LQ3S1hmBCPyKDnGnJMFKyh9fLgTfpQ8C2GDEEU8z54mR5RyQlCJj5PdVaM7N-x7I1P9vYcuGNelrk6HRqcfr67Pfv346bWFQau006N3Sm-1dX2ruwFsqkxwXmmf7szQpGofWuf7JmrVII0OKXRqYibUmraKb9eCjZHnyZMabNAv7s6T5NvZp-vTi8X66_nl6Wq9kKzEZEELTgEwwkCqnGkmMZIgC1WUUOW0YlDKkgDJZIWxRnmtCgYVpVVBCVYV5fQk-TDr9mPVaiVj2x6s6L1pwe-FAyP-jXSmETduKwrEYm0UBd7OAs2DtIvVWkx_iHGECcJbHNk3d8W8ux11GERrgtTWQqfdGARhBcM8y_I8oq8foBs3-i6uQhAe5-U5yWmk3s2U9C4Er-tDBxiJyX0xuS9A_HE_4q_-HvYA39sdATYDO2P1_r9iYvX5y_lq1v0Nvza-bA</recordid><startdate>202105</startdate><enddate>202105</enddate><creator>Glinton, Kevin E.</creator><creator>Hurst, Anna C. 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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. ; 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</author></sort><facets><frbrtype>5</frbrtype><frbrgroupid>cdi_FETCH-LOGICAL-c4912-3853aa101a2b74e4c10cac8d89ab73b4a9c92a26cb11e07fd84ab33b8321db353</frbrgroupid><rsrctype>articles</rsrctype><prefilter>articles</prefilter><language>eng</language><creationdate>2021</creationdate><topic>Chromatin</topic><topic>chromatin remodeling</topic><topic>Dosage</topic><topic>epilepsy</topic><topic>Haploinsufficiency</topic><topic>Human health and pathology</topic><topic>Intellectual disabilities</topic><topic>Life Sciences</topic><topic>microcephaly</topic><topic>Microencephaly</topic><topic>Neurodevelopmental disorders</topic><topic>Original</topic><topic>Scoliosis</topic><topic>Seizures</topic><toplevel>peer_reviewed</toplevel><toplevel>online_resources</toplevel><creatorcontrib>Glinton, Kevin E.</creatorcontrib><creatorcontrib>Hurst, Anna C. 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Part A</jtitle></facets><delivery><delcategory>Remote Search Resource</delcategory><fulltext>fulltext</fulltext></delivery><addata><au>Glinton, Kevin E.</au><au>Hurst, Anna C. E.</au><au>Bowling, Kevin M.</au><au>Cristian, Ingrid</au><au>Haynes, Devon</au><au>Adstamongkonkul, Dusit</au><au>Schnappauf, Oskar</au><au>Beck, David B.</au><au>Brewer, Carole</au><au>Parikh, Aditi Shah</au><au>Shinde, Deepali N.</au><au>Donaldson, Alan</au><au>Brautbar, Ariel</au><au>Koene, Saskia</au><au>Haeringen, Arie</au><au>Piton, Amélie</au><au>Capri, Yline</au><au>Furlan, Margherita</au><au>Gardella, Elena</au><au>Møller, Rikke Steensbjerre</au><au>Beek, Irma</au><au>Zuurbier, Linda</au><au>Lakeman, Phillis</au><au>Bayat, Allan</au><au>Martinez, Julian</au><au>Signer, Rebecca</au><au>Torring, Pernille M.</au><au>Engelund, Morten Buch</au><au>Gripp, Karen W.</au><au>Amlie‐Wolf, Louise</au><au>Henderson, Lindsay B.</au><au>Midro, Alina T.</au><au>Tarasów, Eugeniusz</au><au>Stasiewicz‐Jarocka, Beata</au><au>Moskal‐Jasinska, Diana</au><au>Vos, Paul</au><au>Boschann, Felix</au><au>Stoltenburg, Corinna</au><au>Puk, Oliver</au><au>Mero, Inger‐Lise</au><au>Lossius, Kristine</au><au>Mignot, Cyril</au><au>Keren, Boris</au><au>Acosta Guio, Johanna C.</au><au>Briceño, Ignacio</au><au>Gomez, Alberto</au><au>Yang, Yaping</au><au>Stankiewicz, Pawel</au><format>journal</format><genre>article</genre><ristype>JOUR</ristype><atitle>Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies</atitle><jtitle>American journal of medical genetics. Part A</jtitle><addtitle>Am J Med Genet A</addtitle><date>2021-05</date><risdate>2021</risdate><volume>185</volume><issue>5</issue><spage>1366</spage><epage>1378</epage><pages>1366-1378</pages><issn>1552-4825</issn><eissn>1552-4833</eissn><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.</abstract><cop>Hoboken, USA</cop><pub>John Wiley & Sons, Inc</pub><pmid>33522091</pmid><doi>10.1002/ajmg.a.62102</doi><tpages>13</tpages><orcidid>https://orcid.org/0000-0002-6456-7490</orcidid><orcidid>https://orcid.org/0000-0003-1854-7875</orcidid><orcidid>https://orcid.org/0000-0002-9660-4153</orcidid><orcidid>https://orcid.org/0000-0002-9889-1969</orcidid><orcidid>https://orcid.org/0000-0002-9876-744X</orcidid><orcidid>https://orcid.org/0000-0001-9410-9290</orcidid><orcidid>https://orcid.org/0000-0002-9765-9703</orcidid><orcidid>https://orcid.org/0000-0002-3522-9767</orcidid><orcidid>https://orcid.org/0000-0001-6776-6949</orcidid><orcidid>https://orcid.org/0000-0003-3234-3596</orcidid><oa>free_for_read</oa></addata></record> |
| fulltext | fulltext |
| identifier | ISSN: 1552-4825 |
| ispartof | American journal of medical genetics. Part A, 2021-05, Vol.185 (5), p.1366-1378 |
| issn | 1552-4825 1552-4833 |
| language | eng |
| recordid | cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_8048530 |
| source | Wiley Online Library Journals Frontfile Complete |
| subjects | Chromatin chromatin remodeling Dosage epilepsy Haploinsufficiency Human health and pathology Intellectual disabilities Life Sciences microcephaly Microencephaly Neurodevelopmental disorders Original Scoliosis Seizures |
| title | Phenotypic expansion of the BPTF‐related neurodevelopmental disorder with dysmorphic facies and distal limb anomalies |
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