161
Views
1
CrossRef citations to date
0
Altmetric
CASE REPORT

A Case Report of Cardiofaciocutaneous Syndrome with MAP2K1 Pathogenic Variant

, , , , , , & show all
Pages 817-823 | Received 10 Mar 2023, Accepted 21 Aug 2023, Published online: 08 Sep 2023

References

  • Pierpont ME, Magoulas PL, Adi S, et al. Cardio-facio-cutaneous syndrome: clinical features, diagnosis, and management guidelines. Pediatrics. 2014;134(4):e1149–62. doi:10.1542/peds.2013-3189
  • Rodriguez-Viciana P, Tetsu O, Tidyman WE, et al. Germline pathogenic variants in genes within the MAPK pathway cause cardio-facio-cutaneous syndrome. Science. 2006;311(5765):1287–1290. doi:10.1126/science.1124642
  • Serra G, Felice S, Antona V, et al. Cardio-facio-cutaneous syndrome and gastrointestinal defects: report on a newborn with 19p13.3 deletion including the MAP 2 K2 gene. Ital J Pediatr. 2022;48(1):65. doi:10.1186/s13052-022-01241-6
  • Leoni C, Tedesco M, Onesimo R, Giorgio V, Rigante D, Zampino G. Immunoglobulin deficiency associated with a MAP2K1-related pathogenic variant causing cardio-facio-cutaneous syndrome. Immunol Lett. 2020;227:79–80. doi:10.1016/j.imlet.2020.08.009
  • Jurcă MC, Iuhas OA, Puiu M, et al. Cardiofaciocutaneous syndrome - a longitudinal study of a case over 33 years: case report and review of the literature. Rom J Morphol Embryol. 2021;62(2):563–568. doi:10.47162/RJME.62.2.23
  • Noonan JA. Noonan syndrome and related disorders: alterations in growth and puberty. Rev Endocr Metab Disord. 2006;7(4):251–255. doi:10.1007/s11154-006-9021-1
  • Siegel DH, McKenzie J, Frieden IJ, Rauen KA. Dermatological findings in 61 pathogenic variant-positive individuals with cardiofaciocutaneous syndrome. Br J Dermatol. 2011;164(3):521–529. doi:10.1111/j.1365-2133.2010.10122.x
  • Ciara E, Pelc M, Jurkiewicz D, et al. Is diagnosing cardio-facio-cutaneous (CFC) syndrome still a challenge? Delineation of the phenotype in 15 Polish patients with proven pathogenic variants, including novel pathogenic variants in the BRAF1 gene. Eur J Med Genet. 2015;58(1):14–20. doi:10.1016/j.ejmg.2014.11.002
  • Allanson JE, Annerén G, Aoki Y, et al. Cardio-facio-cutaneous syndrome: does genotype predict phenotype? Am J Med Genet C Semin Med Genet. 2011;157(2):129–135. doi:10.1002/ajmg.c.30295
  • Feyma T, Ramsey K, Huentelman MJ, et al; C4RCD Research Group. Dystonia in ATP2B3-associated X-linked spinocerebellar ataxia. Mov Disord. 2016;31(11):1752–1753. doi:10.1002/mds.26800
  • Chilton I, Okur V, Vitiello G, et al. De novo heterozygous missense and loss-of-function variants in CDC42BPB are associated with a neurodevelopmental phenotype. Am J Med Genet A. 2020;182(5):962–973. doi:10.1002/ajmg.a.61505
  • Wang QM, Chen PL, Peng Q. 心-面-皮肤综合征MAP2K1基因新发突变一例 [A case of a new pathogenic variant of MAP2K1 gene in heart-face-skin syndrome]. Chin J Med Genet. 2020;37(8):567–569. Chinese. doi:10.1136/jmedgenet-2019-106698
  • Rauen KA. Cardiofaciocutaneous syndrome [EB/OL]. In: GeneReviews®. Seattle (WA): University of Washinton, Seattle; 2007:1993–2018.
  • Yoon G, Rosenberg J, Blaser S, Rauen KA. Neurological complications of cardio-facio-cutaneous syndrome. Dev Med Child Neurol. 2007;49(12):894–899. doi:10.1111/j.1469-8749.2007.00894.x