{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Kohler JN"],"funding":["National Institute of Neurological Disorders and Stroke","National Heart, Lung, and Blood Institute","NHGRI NIH HHS","National Cancer Institute","National Institute of Mental Health","NINDS NIH HHS","National Institutes of Health","National Human Genome Research Institute","National Institute on Drug Abuse"],"pagination":["101166"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11451386"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["26(9)"],"pubmed_abstract":["<h4>Purpose</h4>The function of FAM177A1 and its relationship to human disease is largely unknown. Recent studies have demonstrated FAM177A1 to be a critical immune-associated gene. One previous case study has linked FAM177A1 to a neurodevelopmental disorder in 4 siblings.<h4>Methods</h4>We identified 5 individuals from 3 unrelated families with biallelic variants in FAM177A1. The physiological function of FAM177A1 was studied in a zebrafish model organism and human cell lines with loss-of-function variants similar to the affected cohort.<h4>Results</h4>These individuals share a characteristic phenotype defined by macrocephaly, global developmental delay, intellectual disability, seizures, behavioral abnormalities, hypotonia, and gait disturbance. We show that FAM177A1 localizes to the Gol"],"journal":["Genetics in medicine : official journal of the American College of Medical Genetics"],"pubmed_title":["Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder."],"pmcid":["PMC11451386"],"funding_grant_id":["U01HG010218","F32 HG000130","U01 HG010218","U01 NS134358"],"pubmed_authors":["Dasari S","Undiagnosed Diseases Network","Liu XZ","Emrick LT","Wener M","Novacic D","Malicdan MCV","Worley K","Sutton S","Cunningham M","Amendola L","Butte MJ","Jobanputra V","Walker M","Stoler JM","Ezell K","Dickson P","Jean-Marie O","Lawrence Merritt J","Bonner D","Kozuira M","Loo SK","Smith EC","Seto E","Hahn S","Coakley TR","Feng W","Fieg EL","Papp JC","Bellen HJ","Acosta MT","Sessions Cole F","Holt JM","Montgomery SB","Chang TCP","Posey JE","Lanza IR","Silverman EK","Forghani I","Dayal JG","Jarvik GP","Vogel TP","Adams DR","Krakow D","Byers P","Martin MG","Fisher PG","Bale J","Fogel BL","Maghiro A","Mahoney R","Renteria G","Sinsheimer JS","Lanpher BC","Izumi K","Scott DA","McCray AT","Phillips JA","Whitlock J","Newman JH","Sweetser DA","Adam M","McAdow AR","Goddard P","Alvey J","Tran AA","Gochuico B","Macnamara EF","Carrasquillo O","Bowman A","Cobban LA","Nickerson D","Berg-Rood B","Raper A","Davis J","Tarakad A","Marth G","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","Isasi R","Legro NR","Jackstadt MM","Wangler MF","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","Jensen T","Alvarez R","Palmer CGS","Saporta M","Orengo JP","Thorson W","Wheeler MT","Telischi F","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","Shriver LP","Kravets E","Fresard L","Carl Pallais J","Nelson SF","Smith KS","Halley MC","Sybert V","Introne W","Krasnewich DM","Bohnsack J","Urv TK","Tifft CJ","Wan J","Baldridge D","Lewis RA","Zhang B","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","Ron Scott C","Hutchison S","Rives L","Coggins M","Andrews A","Kiley D","Kohler JN","Shashi V","Behrens E","Tan ALM","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","Shin J","Balasubramanyam A","Burrage LC","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","Worthey EA","McConkie-Rosell A","Morava E","Maduro VV","Yamamoto S","Viskochil D","Carey J","Sampson JB","Levitt R","Bademci G","Falk M","High F","Bernstein JA","Postlethwait J","Berry GT","Bican A","Burke EA","Kobren SN","Lam B","LeBlanc K","McCormack C","Lam C","Rossignol F","Walley NM","Robertson AK","Hassey K","Cope H","Ward PA","Earl D","McGee E","Patti GJ","MacRae CA","Hubshman MW","Mefford H","Chinn I","Sullivan JA","Doherty D","Mirzaa G","Ugur B","Corner B","Rosenwasser N","Maas RL","Colley HA","Gahl WA","Loscalzo J","Schedl T","Jayadev S","Rao DA","De Camilli P","Hadley D","Dipple K","Neumann S","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":"Loss of function of FAM177A1, a Golgi complex localized protein, causes a novel neurodevelopmental disorder.","description":"<h4>Purpose</h4>The function of FAM177A1 and its relationship to human disease is largely unknown. Recent studies have demonstrated FAM177A1 to be a critical immune-associated gene. One previous case study has linked FAM177A1 to a neurodevelopmental disorder in 4 siblings.<h4>Methods</h4>We identified 5 individuals from 3 unrelated families with biallelic variants in FAM177A1. The physiological function of FAM177A1 was studied in a zebrafish model organism and human cell lines with loss-of-function variants similar to the affected cohort.<h4>Results</h4>These individuals share a characteristic phenotype defined by macrocephaly, global developmental delay, intellectual disability, seizures, behavioral abnormalities, hypotonia, and gait disturbance. We show that FAM177A1 localizes to the Gol","dates":{"release":"2024-01-01T00:00:00Z","publication":"2024 Sep","modification":"2026-05-29T09:33:34.581Z","creation":"2026-04-08T04:12:44.047Z"},"accession":"S-EPMC11451386","cross_references":{"pubmed":["38767059"],"doi":["10.1016/j.gim.2024.101166"]}}