Anatomical variations linked to Primrose Syndrome: case report / Variações anatómicas ligadas à Síndrome de Prímula: relato de caso
DOI:
https://doi.org/10.34117/bjdv8n6-338Keywords:
Primrose Syndrome, ZBTB20, ectopic calcification, intellectual disability, anatomical variation.Abstract
Primrose syndrome, also called Primrose Syndrome, is a unique autosomal dominant condition caused by heterozygous variants of the type missense in the ZBTB20 gene that lead to a rare genetic disorder. Its main features include an intellectual disability, typical facial properties, abnormalities of the callous body, and autistic features. Other frequent clinical associations include sensorineural hearing loss, hypotonia, macrocephaly, behavioral and dyslexic problems, and glucose metabolism disorders with insulin-resistant diabetes, and loss of distal muscle mass occurring in adulthood. The disorder is caused by functional dysregulation of ZBTB20, a transitional repressor that controls energy metabolism and development alums. We report the case of a man diagnosed with Primrose syndrome, emphasizing its main characteristics and anatomical variations. He is a 30-year-old Brazilian who has a phenotype similar to cases of Primrose syndrome, however, with additional characteristics of ectopic calcifications and progressive muscular and skeletal abnormalities. The work was approved by the Research Ethics Committee under the number 4.911.653.
References
Alby, C; Boutaud, Le Bessières, B and Serre, V and Rio, M and Cormier-Daire, V and Thomas, S, 2018. Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies, American Journal of Medical Genetics, PartA, vol. 176, n 5, pp. 1091–1098.
Battisti C, Dotti MT, Cerase A, Rufa A, Sicurelli F, Scarpini C, Federico A. 2002. The Primrose syndrome with progressive neurological involvement and cerebral calcification. J Neurol 249:1466–1468.
Carvalho, DR and Speck-Martins, CE, 2011. Additional features of unique Primrose syndrome phenotype. American Journal of Medical Genetics, Part A, vol. 155, n 6, pp. 1379–1383.
Casertano, A and Fontana, P and Hennekam, RC and Tartaglia, M and Genesio, R and Dieber, TB and Melis, D, 2017. Alterations in metabolic patterns have a key role in diagnosis and progression of Primrose syndrome. American Journal of Medical Genetics, Part A, vol. 173, n 7, pp.1896–1902.
Cleaver, R and Berg, J and Craft, E and Foster, A and Gibbons, RJ and Hobson, E and Tatton-Brown, K, 2019. Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of The literature. American Journal of Medical Genetics, Part A, vol. 179, n 3, pp. 344–349.
Collacott RA, O'Malley BP, Young ID. 1986. The syndrome of mental handicap, cataracts, muscle wasting and skeletal abnormalities: Report of a second case. J Ment Defic Res 30:301–308.
Cordeddu, V and Redeker, B and Stellacci, E and Jongejan, A and Fragale, A and Bradley, TEJ and Hennekam, RC, 2014. Mutations in ZBTB20 Cause Primrose syndrome, Nature Genetics, vol. 46, n 8, pp.815–817.
Dallal P, Leslie ND, Lindor NM, Gilbert DL, Espay AJ. 2010. Motor tics, stereotypies, and self-flagellation in Primrose syndrome. Neurology 75:284–286.
Decherchi, P. (2005). Dudley joy Morton's foot syndrome. Presse Medicale (Paris, France: 1983), 34 (22 Pt 1), 1737–1740
Grímsdóttir, S., Hove, H.B., Kreiborg, S., Ek, J., Johansen, A., Darvann, T. A., & Hermann, N. V. (2018). Novel de novo mutation in ZBTB20 in Primrose syndrome in boy with short stature. Clinical Dysmorphology, 28(1), 41–45. https://doi.org/10.1097/mcd.0000000000 000244
Hersh, J., Schmitt, E., Pancratz, L., Dobiesz, D., Autullo, L., Goodin, K., ... Ciliberto, C. (2015). Primrose Syndrome: A New Case and Review. Paper presented at the meeting of the American College of Medical Genetics 2016 Annual Clinical Genetics Meeting. 155(11), 1.
Lindor NM, Hoffman AD, Primrose DA. A neuropsychiatric disorder associated with dense calcification of the external ears and distal muscle wasting: 'Primrose syndrome'. Clin Dysmorphol 5:27–34.
Mathijssen, IB and Van, HV and Der, VJ and Hennekam, RCM, 2006. Testicular cancer in a patient with Primrose syndrome, European Journal of Medical Genetics,vol. 49, n 2, pp. 127–133.
DSR e Dias, LL e Carvalho, SBC e Figueiredo, TC e Santos, PRC e Polonio, ALN e Silva. Hypothyroidism: from pathophysiology to treatment. Brazilian Journal of Development, Curitiba, v.8, n.3, p.20298-20305, mar., 2022.
Mattioli, F and Piton, A and Gérard, B and Superti-Furga, A and Mandel, JL and Unger, S, 2016. Novel de novo mutations in ZBTB20 in Primrose syndrome with congenital hypothyroidism. American Journal of Medical Genetics, Part A, vol. 170, n 6, pp.1626–1629
Posmyk, R., Lesniewicz, R., Chorazy, M., & Wołczynski, S. (2011). New case of Primrose syndrome with mild intellectual disability. American Journal of Medical Genetics, Part A, 155(11), 2838–2840. https://doi. org/10.1002/ajmg.a.34257
Primrose, DA, 2008. A slowly progressive degenerative condition characterized by mental deficiency, wasting of limb musculature and bone abnormalities, including ossification of the pinnae,Journal of Intellectual Disability Research,vol. 26, n 2, pp. 101–106.
Stellacci, E and Steindl, K and Joset, P and Mercurio, L and Anselmi, M and Cecchetti, S and Rauch, A, 2018. Clinical and functional characterization of two novel ZBTB20 mutations causing Primrose syndrome. Human Mutation, vol. 39, pp. 1–6.
Sutherland, APR. and Zhang, H and Zhang, Y and Michaud, M and Xie, Z and Patti, ME and Zhang, WJ, 2009. Zinc finger protein Zbtb20 is essential for postnatal Survival and glucose homeostasis. Molecular and Cellular Biology, vol. 29, n 10, pp. 2804–2815.
Zhang, H and Cao, D and Zhou, L and Zhang, Y and Guo, X and Li, H, 2015. ZBTB20 is a sequence-specific transcriptional repressor of alphafetoprotein gene. Science Reports, vol. 5, pp.119-790
YC e Prieto, LGS e Toledo, RR e Machado, MRL e Dutra, RM e Shimokomaki. Cataract and the stages of life: a multifactorial approach to lens opacification. Brazilian Journal of Development, Curitiba, v.8, n.3, p.20111-20116 mar., 2022.
