PMID- 38511854 OWN - NLM STAT- Publisher LR - 20240402 IS - 1552-4833 (Electronic) IS - 1552-4825 (Linking) DP - 2024 Mar 21 TI - Undiagnosed Disease Network collaborative approach in diagnosing rare disease in a patient with a mosaic CACNA1D variant. PG - e63597 LID - 10.1002/ajmg.a.63597 [doi] AB - The Undiagnosed Disease Network (UDN) is comprised of clinical and research experts collaborating to diagnose rare disease. The UDN is funded by the National Institutes of Health and includes 12 different clinical sites (About Us, 2022). Here we highlight the success of collaborative efforts within the UDN Clinical Site at Vanderbilt University Medical Center (VUMC) in utilizing a cohort of experts in bioinformatics, structural biology, and genetics specialists in diagnosing rare disease. Our UDN team identified a de novo mosaic CACNA1D variant c.2299T>C in a 5-year-old female with a history of global developmental delay, dystonia, dyskinesis, and seizures. Using a collaborative multidisciplinary approach, our VUMC UDN team diagnosed the participant with Primary Aldosteronism, Seizures, and Neurologic abnormalities (PASNA) OMIM: 615474 due to a rare mosaic CACNA1D variant (O'Neill, 2013). Interestingly, this patient was mosaic, a phenotypic trait previously unreported in PASNA cases. This report highlights the importance of a multidisciplinary approach in diagnosing rare disease. CI - (c) 2024 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC. FAU - Ezell, Kimberly M AU - Ezell KM AUID- ORCID: 0009-0005-7200-7644 AD - Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA. FAU - Tinker, Rory J AU - Tinker RJ AD - Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA. FAU - Furuta, Yutaka AU - Furuta Y AUID- ORCID: 0009-0001-7278-8242 AD - Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA. FAU - Gulsevin, Alican AU - Gulsevin A AD - Department of Chemistry, Center for Structural Biology, Vanderbilt University Medical Center, Nashville, Tennessee, USA. AD - Department of Pharmaceutical Sciences, College of Pharmacy and Health Sciences, Butler University, Indianapolis, Indiana, USA. FAU - Bastarache, Lisa AU - Bastarache L AD - Department of Biomedical Informatics, Vanderbilt University Medical Center, Nashville, Tennessee, USA. FAU - Hamid, Rizwan AU - Hamid R AD - Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA. FAU - Cogan, Joy D AU - Cogan JD AD - Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA. FAU - Rives, Lynette AU - Rives L AD - Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA. FAU - Neumann, Serena AU - Neumann S AD - Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA. FAU - Corner, Brian AU - Corner B AD - Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA. FAU - Kozuria, Mary AU - Kozuria M AD - Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA. FAU - Phillips, John A 3rd AU - Phillips JA 3rd AD - Department of Pediatrics, Division of Medical Genetics and Genomic Medicine, Vanderbilt University Medical Center, Nashville, Tennessee, USA. CN - Undiagnosed Diseases Network LA - eng GR - U01 NS134349/NS/NINDS NIH HHS/United States GR - 15-HG-0130/NH/NIH HHS/United States PT - Case Reports DEP - 20240321 PL - United States TA - Am J Med Genet A JT - American journal of medical genetics. Part A JID - 101235741 SB - IM OTO - NOTNLM OT - CACNA1D OT - Mosaic OT - Undiagnosed Disease Network FIR - Adams, David R IR - Adams DR FIR - Afzali, Ben IR - Afzali B FIR - Al-Beshri, Ali IR - Al-Beshri A FIR - Allworth, Aimee IR - Allworth A FIR - Alvarez, Raquel L IR - Alvarez RL FIR - Alvey, Justin IR - Alvey J FIR - Andrews, Ashley IR - Andrews A FIR - Ashley, Euan A IR - Ashley EA FIR - Bacino, Carlos A IR - Bacino CA FIR - Bademci, Guney IR - Bademci G FIR - Balasubramanyam, Ashok IR - Balasubramanyam A FIR - Baldridge, Dustin IR - Baldridge D FIR - Bale, Jim IR - Bale J FIR - Bamshad, Michael IR - Bamshad M FIR - Barbouth, Deborah IR - Barbouth D FIR - Bayrak-Toydemir, Pinar IR - Bayrak-Toydemir P FIR - Beck, Anita IR - Beck A FIR - Beggs, Alan H IR - Beggs AH FIR - Behrens, Edward IR - Behrens E FIR - Bejerano, Gill IR - Bejerano G FIR - Bellen, Hugo J IR - Bellen HJ FIR - Bennett, Jimmy IR - Bennett J FIR - Bernstein, Jonathan A IR - Bernstein JA FIR - Berry, Gerard T IR - Berry GT FIR - Bican, Anna IR - Bican A FIR - Bivona, Stephanie IR - Bivona S FIR - Blue, Elizabeth IR - Blue E FIR - Bohnsack, John IR - Bohnsack J FIR - Bonner, Devon IR - Bonner D FIR - Borja, Nicholas IR - Borja N FIR - Botto, Lorenzo IR - Botto L FIR - Briere, Lauren C IR - Briere LC FIR - Burke, Elizabeth A IR - Burke EA FIR - Burrage, Lindsay C IR - Burrage LC FIR - Butte, Manish J IR - Butte MJ FIR - Byers, Peter IR - Byers P FIR - Byrd, William E IR - Byrd WE FIR - Callaway, Kaitlin IR - Callaway K FIR - Carey, John IR - Carey J FIR - Carvalho, George IR - Carvalho G FIR - Cassini, Thomas IR - Cassini T FIR - Chanprasert, Sirisak IR - Chanprasert S FIR - Chao, Hsiao-Tuan IR - Chao HT FIR - Chinn, Ivan IR - Chinn I FIR - Clark, Gary D IR - Clark GD FIR - Coakley, Terra R IR - Coakley TR FIR - Cobban, Laurel A IR - Cobban LA FIR - Cogan, Joy D IR - Cogan JD FIR - Coggins, Matthew IR - Coggins M FIR - Cole, F Sessions IR - Cole FS FIR - Corner, Brian IR - Corner B FIR - Corona, Rosario I IR - Corona RI FIR - Craigen, William J IR - Craigen WJ FIR - Crouse, Andrew B IR - Crouse AB FIR - Cuddapah, Vishnu IR - Cuddapah V FIR - Cunningham, Michael IR - Cunningham M FIR - D'Souza, Precilla IR - D'Souza P FIR - Dai, Hongzheng IR - Dai H FIR - Darr, Kahlen IR - Darr K FIR - Dasari, Surendra IR - Dasari S FIR - Davis, Joie IR - Davis J FIR - Delgado, Margaret IR - Delgado M FIR - Dell'Angelica, Esteban C IR - Dell'Angelica EC FIR - Dipple, Katrina IR - Dipple K FIR - Doherty, Daniel IR - Doherty D FIR - Dorrani, Naghmeh IR - Dorrani N FIR - Douglas, Jessica IR - Douglas J FIR - Douine, Emilie D IR - Douine ED FIR - Earl, Dawn IR - Earl D FIR - Emrick, Lisa T IR - Emrick LT FIR - Eng, Christine M IR - Eng CM FIR - Ezell, Kimberly IR - Ezell K FIR - Fieg, Elizabeth L IR - Fieg EL FIR - Fisher, Paul G IR - Fisher PG FIR - Fogel, Brent L IR - Fogel BL FIR - Fu, Jiayu IR - Fu J FIR - Gahl, William A IR - Gahl WA FIR - Ganetzky, Rebecca IR - Ganetzky R FIR - Glanton, Emily IR - Glanton E FIR - Glass, Ian IR - Glass I FIR - Goddard, Page C IR - Goddard PC FIR - Gonzalez, Joanna M IR - Gonzalez JM FIR - Gropman, Andrea IR - Gropman A FIR - Halley, Meghan C IR - Halley MC FIR - Hamid, Rizwan IR - Hamid R FIR - Hanchard, Neal IR - Hanchard N FIR - Hassey, Kelly IR - Hassey K FIR - Hayes, Nichole IR - Hayes N FIR - High, Frances IR - High F FIR - Hing, Anne IR - Hing A FIR - Hisama, Fuki M IR - Hisama FM FIR - Holm, Ingrid A IR - Holm IA FIR - Hom, Jason IR - Hom J FIR - Horike-Pyne, Martha IR - Horike-Pyne M FIR - Huang, Alden IR - Huang A FIR - Huang, Yan IR - Huang Y FIR - Hurst, Anna IR - Hurst A FIR - Introne, Wendy IR - Introne W FIR - Jarvik, Gail P IR - Jarvik GP FIR - Jarvik, Jeffrey IR - Jarvik J FIR - Jayadev, Suman IR - Jayadev S FIR - Jean-Marie, Orpa IR - Jean-Marie O FIR - Jobanputra, Vaidehi IR - Jobanputra V FIR - Kaitryn, Emerald IR - Kaitryn E FIR - Kanca, Oguz IR - Kanca O FIR - Karasozen, Yigit IR - Karasozen Y FIR - Ketkar, Shamika IR - Ketkar S FIR - Kiley, Dana IR - Kiley D FIR - Kilich, Gonench IR - Kilich G FIR - Klee, Eric IR - Klee E FIR - Kobren, Shilpa N IR - Kobren SN FIR - Kohane, Isaac S IR - Kohane IS FIR - Kohler, Jennefer N IR - Kohler JN FIR - Korf, Bruce IR - Korf B FIR - Korrick, Susan IR - Korrick S FIR - Krakow, Deborah IR - Krakow D FIR - Kravets, Elijah IR - Kravets E FIR - Lalani, Seema R IR - Lalani SR FIR - Lam, Christina IR - Lam C FIR - Lanpher, Brendan C IR - Lanpher BC FIR - Lanza, Ian R IR - Lanza IR FIR - Latchman, Kumarie IR - Latchman K FIR - LeBlanc, Kimberly IR - LeBlanc K FIR - Lee, Brendan H IR - Lee BH FIR - Lewis, Richard A IR - Lewis RA FIR - Liu, Pengfei IR - Liu P FIR - Longo, Nicola IR - Longo N FIR - Loscalzo, Joseph IR - Loscalzo J FIR - Maas, Richard L IR - Maas RL FIR - Macnamara, Ellen F IR - Macnamara EF FIR - MacRae, Calum A IR - MacRae CA FIR - Maduro, Valerie V IR - Maduro VV FIR - Maghiro, AudreyStephannie IR - Maghiro A FIR - Mahoney, Rachel IR - Mahoney R FIR - Malicdan, May Christine V IR - Malicdan MCV FIR - Mao, Rong IR - Mao R FIR - Marom, Ronit IR - Marom R FIR - Marth, Gabor IR - Marth G FIR - Martin, Beth A IR - Martin BA FIR - Martin, Martin G IR - Martin MG FIR - Martinez-Agosto, Julian A IR - Martinez-Agosto JA FIR - Marwaha, Shruti IR - Marwaha S FIR - McConkie-Rosell, Allyn IR - McConkie-Rosell A FIR - McCray, Alexa T IR - McCray AT FIR - Might, Matthew IR - Might M FIR - Mikati, Mohamad IR - Mikati M FIR - Miller, Danny IR - Miller D FIR - Mirzaa, Ghayda IR - Mirzaa G FIR - Mitchell, Breanna IR - Mitchell B FIR - Moretti, Paolo IR - Moretti P FIR - Morimoto, Marie IR - Morimoto M FIR - Mulvihill, John J IR - Mulvihill JJ FIR - Mulvihill, Lindsay IR - Mulvihill L FIR - Nakano-Okuno, Mariko IR - Nakano-Okuno M FIR - Nelson, Stanley F IR - Nelson SF FIR - Neumann, Serena IR - Neumann S FIR - Novacic, Donna IR - Novacic D FIR - Oglesbee, Devin IR - Oglesbee D FIR - Orengo, James P IR - Orengo JP FIR - Pace, Laura IR - Pace L FIR - Pak, Stephen IR - Pak S FIR - Pallais, J Carl IR - Pallais JC FIR - Parker, Neil H IR - Parker NH FIR - Peart, LeShon IR - Peart L FIR - Petcharet, Leoyklang IR - Petcharet L FIR - Phillips, John A IR - Phillips JA FIR - Pinto E Vairo, Filippo IR - Pinto E Vairo F FIR - Posey, Jennifer E IR - Posey JE FIR - Potocki, Lorraine IR - Potocki L FIR - Pusey Swerdzewski, Barbara N IR - Pusey Swerdzewski BN FIR - Quinlan, Aaron IR - Quinlan A FIR - Rader, Daniel J IR - Rader DJ FIR - Rajagopalan, Ramakrishnan IR - Rajagopalan R FIR - Rao, Deepak A IR - Rao DA FIR - Raper, Anna IR - Raper A FIR - Raskind, Wendy IR - Raskind W FIR - Rebelo, Adriana IR - Rebelo A FIR - Reuter, Chloe M IR - Reuter CM FIR - Rives, Lynette IR - Rives L FIR - Robertson, Amy K IR - Robertson AK FIR - Rodan, Lance H IR - Rodan LH FIR - Rodriguez, Martin IR - Rodriguez M FIR - Rosenfeld, Jill A IR - Rosenfeld JA FIR - Rosenthal, Elizabeth IR - Rosenthal E FIR - Rossignol, Francis IR - Rossignol F FIR - Ruzhnikov, Maura IR - Ruzhnikov M FIR - Sabaii, Marla IR - Sabaii M FIR - Sampson, Jacinda B IR - Sampson JB FIR - Schedl, Timothy IR - Schedl T FIR - Schimmenti, Lisa IR - Schimmenti L FIR - Schoch, Kelly IR - Schoch K FIR - Scott, Daryl A IR - Scott DA FIR - Seto, Elaine IR - Seto E FIR - Shashi, Vandana IR - Shashi V FIR - Shelkowitz, Emily IR - Shelkowitz E FIR - Sheppeard, Sam IR - Sheppeard S FIR - Shin, Jimann IR - Shin J FIR - Silverman, Edwin K IR - Silverman EK FIR - Sirugo, Giorgio IR - Sirugo G FIR - Sisco, Kathy IR - Sisco K FIR - Skelton, Tammi IR - Skelton T FIR - Skraban, Cara IR - Skraban C FIR - Smith, Carson A IR - Smith CA FIR - Smith, Kevin S IR - Smith KS FIR - Solnica-Krezel, Lilianna IR - Solnica-Krezel L FIR - Solomon, Ben IR - Solomon B FIR - Spillmann, Rebecca C IR - Spillmann RC FIR - Stergachis, Andrew IR - Stergachis A FIR - Stoler, Joan M IR - Stoler JM FIR - Sullivan, Kathleen IR - Sullivan K FIR - Sutton, Shirley IR - Sutton S FIR - Sweetser, David A IR - Sweetser DA FIR - Sybert, Virginia IR - Sybert V FIR - Tabor, Holly K IR - Tabor HK FIR - Tan, Queenie IR - Tan Q FIR - Tan, Amelia L M IR - Tan ALM FIR - Tarakad, Arjun IR - Tarakad A FIR - Taylor, Herman IR - Taylor H FIR - Tekin, Mustafa IR - Tekin M FIR - Thorson, Willa IR - Thorson W FIR - Tifft, Cynthia J IR - Tifft CJ FIR - Toro, Camilo IR - Toro C FIR - Tran, Alyssa A IR - Tran AA FIR - Ungar, Rachel A IR - Ungar RA FIR - Vanderver, Adeline IR - Vanderver A FIR - Velinder, Matt IR - Velinder M FIR - Viskochil, Dave IR - Viskochil D FIR - Vogel, Tiphanie P IR - Vogel TP FIR - Wahl, Colleen E IR - Wahl CE FIR - Walker, Melissa IR - Walker M FIR - Walley, Nicole M IR - Walley NM FIR - Wambach, Jennifer IR - Wambach J FIR - Wangler, Michael F IR - Wangler MF FIR - Ward, Patricia A IR - Ward PA FIR - Wegner, Daniel IR - Wegner D FIR - Hubshman, Monika Weisz IR - Hubshman MW FIR - Wener, Mark IR - Wener M FIR - Wenger, Tara IR - Wenger T FIR - Westerfield, Monte IR - Westerfield M FIR - Wheeler, Matthew T IR - Wheeler MT FIR - Whitlock, Jordan IR - Whitlock J FIR - Wolfe, Lynne A IR - Wolfe LA FIR - Wood, Heidi IR - Wood H FIR - Worley, Kim IR - Worley K FIR - Yamamoto, Shinya IR - Yamamoto S FIR - Zhang, Zhe IR - Zhang Z FIR - Zuchner, Stephan IR - Zuchner S EDAT- 2024/03/21 12:44 MHDA- 2024/03/21 12:44 CRDT- 2024/03/21 08:33 PHST- 2024/02/23 00:00 [revised] PHST- 2024/01/08 00:00 [received] PHST- 2024/03/08 00:00 [accepted] PHST- 2024/03/21 12:44 [medline] PHST- 2024/03/21 12:44 [pubmed] PHST- 2024/03/21 08:33 [entrez] AID - 10.1002/ajmg.a.63597 [doi] PST - aheadofprint SO - Am J Med Genet A. 2024 Mar 21:e63597. doi: 10.1002/ajmg.a.63597.