A Forkhead box G1 (FOXG1) gene mutation in an Indian patient with a congenital variant of Rett syndrome.
Abstract
A congenital variant of rett syndrome or Forkhead box G1 (FOXG1) syndrome is a rare neurodevelopmental disorder characterized by global developmental delay, microcephaly, autistic features, early-onset dyskinesia, and seizures. Once it was described as one atypical variant of rett syndrome but now considered as a separate entity. The current study found one girl carrying the de novo c.500-501incG frameshift mutation in the FOXG1 gene by genetic analysis during the evaluation for severe chronic encephalopathy. In literature, only one case was reported from India with FOXG1 mutation. The FOXG1 mutation should be considered in children with a history of global developmental delay, dyskinesia, and microcephaly with characteristic brain neuroimaging findings.
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References
Neul JL, Kaufmann WE, Glaze DG, Christodoulou J, Clarke AJ, Bahi‐Buisson N, et al. Rett syndrome: revised diagnostic criteria and nomenclature. Annals Neurol. 2010;68(6):944-950. doi: 10.1002/ana.22124.
Kumamoto T, Hanashima C. Evolutionary conservation and conversion of Foxg1 function in brain development. Dev Growth Differ. 2017;59(4):258-269. doi: 10.1111/dgd.12367.
Kortüm F, Das S, Flindt M, Morris-Rosendahl DJ, Stefanova I, Goldstein A, et al. The core FOXG1 syndrome phenotype consists of postnatal microcephaly, severe mental retardation, absent language, dyskinesia, and corpus callosum hypogenesis. J Med Genet. 2011;48(6):396-406. doi: 10.1136/jmg.2010.087528.
De Bruyn C, Vanderhasselt T, Tanyalçin I, Keymolen K, Van Rompaey KL, De Meirleir L, et al. Thin genu of the corpus callosum points to mutation in FOXG1 in a child with acquired microcephaly,trigonocephaly, and intellectual developmental disorder: A case report and review of literature. Eur J Paediatr Neurol. 2014;18(3):420-426. doi: 10.1016/j.ejpn.2013.11.010.
Caporali C, Signorini S, De Giorgis V, Pichiecchio A, Zuffardi O, Orcesi S. Early-onset movement disorder as diagnostic marker in genetic syndromes: Three cases of FOXG1-related syndrome. Eur J Paediatr Neurol. 2018;22(2):336-339. doi: 10.1016/j.ejpn.2018.01.007.
Mitter D, Pringsheim M, Kaulisch M, Plümacher KS, Schröder S, Warthemann R, et al. FOXG1 syndrome: Genotype-phenotype association in 83 patients with FOXG1 variants. Genet. Med. 2018;20(1):98-108. doi: 10.1038/gim.2017.75.
Zhang Q, Wang J, Li J, Bao X, Zhao Y, Zhang X, et al. Novel FOXG1 mutations in Chinese patients with Rett syndrome or Rett-like mental retardation. BMC Med Genet. 2017;18(1):96. doi: 10.1186/s12881-017-0455-y.
Shoichet SA, Kunde SA, Viertel P, Schell-Apacik C, von Voss H, Tommerup N, et al. Haploinsufficiency of novel FOXG1B variants in a patient with severe mental retardation, brain malformations and microcephaly. Hum Genet. 2005;117(6):536-544. doi: 10.1007/s00439-005-1310-3.
Das DK, Jadhav V, Ghattargi VC, Udani V. Novel mutation in forkhead box G1 (FOXG1) gene in an Indian patient with Rett syndrome. Gene. 2014;538(1):109-112. doi: 10.1016/j.gene.2013.12.063.
Vineeth VS, Dutta UR, Tallapaka K, Bhowmik AD, Dalal A. Whole exome sequencing identifies a novel 5Mb deletion at 14q12 region in a patient with global developmental delay, microcephaly and seizures. Gene. 2018;673:56-60. doi: 10.1016/j.gene.2018.06.045.
Papandreou A, Schneider RB, Augustine EF, Ng J, Mankad K, Meyer E, et al. Delineation of the movement disorders associated with FOXG1 mutations. Neurol. 2016;86(19):1794-1800. doi: 10.1212/WNL.0000000000002585.
Cellini E, Vignoli A, Pisano T, Falchi M, Molinaro A, Accorsi P, et al. The hyperkinetic movement disorder of FOXG1-related epileptic-dyskinetic encephalopathy. Dev Med Child Neurol. 2016;58(1):93-97. doi: 10.1111/dmcn.12894.
Vegas N, Cavallin M, Maillard C, Boddaert N, Toulouse J, Schaefer E, et al. Delineating FOXG1 syndrome: From congenital microcephaly to hyperkinetic encephalopathy. Neurol Genet. 2018;4(6):e281. doi: 10.1212/NXG.0000000000000281.
Pontrelli G, Cappelletti S, Claps D, Sirleto P, Ciocca L, Petrocchi S, et al. Epilepsy in patients with duplications of chromosome 14 harboring Foxg1. Pediatr Neurol. 2014;50(5):530-535. doi: 10.1016/j.pediatrneurol.2014.01.022.
Yeung A, Bruno D, Scheffer IE, Carranza D, Burgess T, Slater HR, et al. 4.45 Mb microduplication in chromosome band 14q12 including FOXG1 in a girl with refractory epilepsy and intellectual impairment. Eur J Med Genet. 2009;52(6):440–442. doi: 10.1016/j.ejmg.2009.09.004.
Seltzer LE, Ma M, Ahmed S, Bertrand M, Dobyns WB, Wheless J, et al. Epilepsy and outcome in FOXG1‐related disorders. Epilepsia. 2014;55(8):1292-1300. doi: 10.1111/epi.12648.
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