{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Andrews JC"],"funding":["NHGRI NIH HHS","NINDS NIH HHS","NIH HHS"],"pagination":["100833"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11533975"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["25(6)"],"pubmed_abstract":["<h4>Purpose</h4>Myocardin-related transcription factor B (MRTFB) is an important transcriptional regulator, which promotes the activity of an estimated 300 genes but is not known to underlie a Mendelian disorder.<h4>Methods</h4>Probands were identified through the efforts of the Undiagnosed Disease Network. Because the MRTFB protein is highly conserved between vertebrate and invertebrate model organisms, we generated a humanized Drosophila model expressing the human MRTFB protein in the same spatial and temporal pattern as the fly gene. Actin binding assays were used to validate the effect of the variants on MRTFB.<h4>Results</h4>Here, we report 2 pediatric probands with de novo variants in MRTFB (p.R104G and p.A91P) and mild dysmorphic features, intellectual disability, global development"],"journal":["Genetics in medicine : official journal of the American College of Medical Genetics"],"pubmed_title":["De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features."],"pmcid":["PMC11533975"],"funding_grant_id":["U01 HG007703","U2C NS132415","R24 OD031447","R24 OD022005","U54 NS093793","F32 NS110174"],"pubmed_authors":["Dasari S","Cole FS","Undiagnosed Diseases Network","Liu XZ","Emrick LT","Solem E","Wener M","Novacic D","Malicdan MCV","Worley K","Sutton S","Cunningham M","Amendola L","Butte MJ","Jobanputra V","Walker M","Stoler JM","Jean-Marie O","Bonner D","Kozuira M","Cooper CM","Loo SK","Smith EC","Hahn S","Coakley TR","Pallais JC","Fieg EL","Papp JC","Bellen HJ","Acosta MT","Posey JE","Lanza IR","Silverman EK","Forghani I","Mok JW","Dayal JG","Jarvik GP","Vogel TP","Adams DR","Duncan L","Krakow D","Byers P","Martin MG","Bale J","Fisher PG","Fogel BL","Maghiro A","Mahoney R","Renteria G","Sinsheimer JS","Lanpher BC","Izumi K","Scott DA","McCray AT","Phillips JA","Whitlock J","Newman JH","Scott CR","Sweetser DA","Adam M","Alvey J","Tran AA","Macnamara EF","Gochuico B","Carrasquillo O","Cobban LA","Nickerson D","Berg-Rood B","Raper A","Davis J","Marth G","Wang LK","Cogan JD","Schaechter J","Nicholas SK","Bivona S","Tabor HK","Wenger T","Pusey Swerdzewski BN","Bejerano G","Mulvihill J","Jarvik J","Craigen WJ","Might M","Boyd B","Kennedy J","Isasi R","Wangler MF","Andrews JC","Karaviti L","Pak S","Zuchner S","Bayrak-Toydemir P","Hisama FM","Martin BA","Hayes N","Longo N","Ketkar S","Rosenfeld JA","Jamal F","Mao R","Liu P","Sullivan K","Mamounas LA","Wallace S","Wambach J","Alvarez RL","Lalani SR","Dorrani N","Parker NH","Blue E","Peter Chang TC","Palmer CGS","Saporta M","Orengo JP","Thorson W","Telischi F","Wheeler MT","Hing A","Horike-Pyne M","Martinez-Agosto JA","Bennett J","Kilich G","Bamshad M","Corona R","Zhang Z","Tekin M","Eng CM","D'Souza P","Hom J","Kravets E","Nelson SF","Halley MC","Smith KS","Sybert V","Introne W","Krasnewich DM","Bohnsack J","Urv TK","Tifft CJ","Wan J","Baldridge D","Lewis RA","Holm IA","Sacco R","Solomon B","Solnica-Krezel L","Clark GD","McCauley J","Rodan LH","Byrd WE","Kohane IS","Nieves-Rodriguez S","Beck A","Moretti P","Potocki L","Grajewski A","Crouse AB","Glass I","Wegner D","Doss AL","Hutchison S","Rives L","Coggins M","Andrews A","Kiley D","Kohler JN","Shashi V","Behrens E","Tan ALM","Jangam S","Botto L","Ashley EA","Bacino CA","Chanprasert S","Eckstein DJ","Barbouth D","Briere LC","Quinlan A","Ruzhnikov M","Maravilla K","Beggs AH","Marwaha S","Nakano-Okuno M","Hamid R","Reuter CM","Xiao C","Dai H","Spillmann RC","Goddard PC","Sisco K","Sun A","Vanderver A","Balasubramanyam A","Burrage LC","Shin J","Brown G","Schoch K","Marom R","Ungar RA","Manolio TA","Toro C","Pace L","Lee BH","Cassini T","Chao HT","Huang A","Oglesbee D","Velinder M","Yang J","McConkie-Rosell A","Morava E","Maduro VV","Yamamoto S","Viskochil D","Carey J","Sampson JB","Levitt R","Merritt JL","Bademci G","Falk M","Russell BE","High F","Bernstein JA","Berry GT","Bican A","Burke EA","Brokamp E","Kobren SN","Lam B","LeBlanc K","Lam C","Rossignol F","Walley NM","Robertson AK","Hassey K","Cope H","Ward PA","Earl D","McGee E","MacRae CA","Hubshman MW","Mefford H","Sullivan JA","Doherty D","Mirzaa G","Rosenwasser N","Maas RL","Tifft C","Colley HA","Gahl WA","Loscalzo J","Schedl T","Jayadev S","Rao DA","Hadley D","Kanca O","Dipple K","Wolfe LA","Korrick S","Raskind W","Dell'Angelica EC","Godfrey RA","Tan QK","Westerfield M","Douine ED","Wahl CE","Golden-Grant K"],"additional_accession":[]},"is_claimable":false,"name":"De novo variants in MRTFB have gain-of-function activity in Drosophila and are associated with a novel neurodevelopmental phenotype with dysmorphic features.","description":"<h4>Purpose</h4>Myocardin-related transcription factor B (MRTFB) is an important transcriptional regulator, which promotes the activity of an estimated 300 genes but is not known to underlie a Mendelian disorder.<h4>Methods</h4>Probands were identified through the efforts of the Undiagnosed Disease Network. Because the MRTFB protein is highly conserved between vertebrate and invertebrate model organisms, we generated a humanized Drosophila model expressing the human MRTFB protein in the same spatial and temporal pattern as the fly gene. Actin binding assays were used to validate the effect of the variants on MRTFB.<h4>Results</h4>Here, we report 2 pediatric probands with de novo variants in MRTFB (p.R104G and p.A91P) and mild dysmorphic features, intellectual disability, global development","dates":{"release":"2023-01-01T00:00:00Z","publication":"2023 Jun","modification":"2025-04-04T07:27:53.421Z","creation":"2025-04-04T07:27:53.421Z"},"accession":"S-EPMC11533975","cross_references":{"pubmed":["37013900"],"doi":["10.1016/j.gim.2023.100833"]}}