Citations for
1GPIBD20, HPMR, HPMRS4, MCAHS, MCAHS2, PGAP3, PIGA, PIGN, PIGU, PIGV
Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.
Knaus A, Kortüm F, Kleefstra T, Stray-Pedersen A, Đukić D, Murakami Y, Gerstner T, van Bokhoven H, Iqbal Z, Horn D, Kinoshita T, Hempel M, Krawitz PM.
Am J Hum Genet 105(2):395-402. doi: 10.1016/j.ajhg.2019.06.009. Epub 2019 Jul 25. 2019
2MCAHS, MCAHS2, PIGA, PIGN
Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.
Knaus A, Pantel JT, Pendziwiat M, Hajjir N, Zhao M, Hsieh TC, Schubach M, Gurovich Y, Fleischer N, Jäger M, Köhler S, Muhle H, Korff C, Møller RS, Bayat A, Calvas P, Chassaing N, Warren H, Skinner S, Louie R, Evers C, Bohn M, Christen HJ, van den Born M, Obersztyn E, Charzewska A, Endziniene M, Kortüm F, Brown N, Robinson PN, Schelhaas HJ, Weber Y, Helbig I, Mundlos S, Horn D, Krawitz PM.
Genome Med 10(1):3. doi: 10.1186/s13073-017-0510-5. 2018
3MCAHS2, PIGA
A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.
Fauth C, Steindl K, Toutain A, Farrell S, Witsch-Baumgartner M, Karall D, Joset P, Böhm S, Baumer A, Maier O, Zschocke J, Weksberg R, Marshall CR, Rauch A.
Am J Med Genet A 170(2):392-402. doi: 10.1002/ajmg.a.37452. Epub 2015 Nov 6. 2016
4MCAHS2, PIGA
The genotypic and phenotypic spectrum of PIGA deficiency.
Tarailo-Graovac M, Sinclair G, Stockler-Ipsiroglu S, Van Allen M, Rozmus J, Shyr C, Biancheri R, Oh T, Sayson B, Lafek M, Ross CJ, Robinson WP, Wasserman WW, Rossi A, van Karnebeek CD.
Orphanet J Rare Dis 10:23. doi: 10.1186/s13023-015-0243-8. 2015
5MCAHS2, PIGA
Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality.
Belet S, Fieremans N, Yuan X, Van Esch H, Verbeeck J, Ye Z, Cheng L, Brodsky BR, Hu H, Kalscheuer VM, Brodsky RA, Froyen G.
Hum Mutat 35(3):350-5. doi: 10.1002/humu.22498. Epub 2014 Jan 13. 2014
6MCAHS2, PIGA
PIGA mutations cause early-onset epileptic encephalopathies and distinctive features.
Kato M, Saitsu H, Murakami Y, Kikuchi K, Watanabe S, Iai M, Miya K, Matsuura R, Takayama R, Ohba C, Nakashima M, Tsurusaki Y, Miyake N, Hamano S, Osaka H, Hayasaka K, Kinoshita T, Matsumoto N.
Neurology 82(18):1587-96. doi: 10.1212/WNL.0000000000000389. Epub 2014 Apr 4. 2014
7MCAHS2, PIGA
A novel germline PIGA mutation in Ferro-Cerebro-Cutaneous syndrome: a neurodegenerative X-linked epileptic encephalopathy with systemic iron-overload.
Swoboda KJ, Margraf RL, Carey JC, Zhou H, Newcomb TM, Coonrod E, Durtschi J, Mallempati K, Kumanovics A, Katz BE, Voelkerding KV, Opitz JM.
Am J Med Genet A 164A(1):17-28. doi: 10.1002/ajmg.a.36189. Epub 2013 Nov 20. 2014
8MCAHS2, PIGA
Expanding the spectrum of phenotypes associated with germline PIGA mutations: a child with developmental delay, accelerated linear growth, facial dysmorphisms, elevated alkaline phosphatase, and progressive CNS abnormalities.
van der Crabben SN, Harakalova M, Brilstra EH, van Berkestijn FM, Hofstede FC, van Vught AJ, Cuppen E, Kloosterman W, Ploos van Amstel HK, van Haaften G, van Haelst MM.
Am J Med Genet A 164A(1):29-35. doi: 10.1002/ajmg.a.36184. Epub 2013 Nov 20. Review. 2014
9MCAHS, MCAHS2, PIGA, PIGN, PNH
The Phenotype of a Germline Mutation in PIGA: The Gene Somatically Mutated in Paroxysmal Nocturnal Hemoglobinuria.
Johnston JJ, Gropman AL, Sapp JC, Teer JK, Martin JM, Liu CF, Yuan X, Ye Z, Cheng L, Brodsky RA, Biesecker LG.
Am J Hum Genet 90(2):295-300. Epub 2012 Feb 2. 2012