medigraphic.com
Colegio de Medicina Interna de México.

2019, Number 6

<< Back Next >>

Med Int Mex 2019; 35 (6)

Genotype-phenotype correlation study in a Mexican family with late Pompe disease

González-Santillanes CA, Ríos-Tostado JJ, Gómez-Paredes AS, Velarde-Rodríguez I, Verdugo-Nieto L, Velarde-Félix JS

Language: Spanish
References: 10
Page: 969-974
PDF size: 362.02 Kb.


ABSTRACT

Background: Pompe disease is an autosomal recessive disorder caused by mutations in the GAA gene that lead to a deficiency of the lysosomal acid alpha-glucosidase activity, which results in the accumulation of glycogen in muscle fibers.
Clinical cases: This paper describes the clinical, biochemical and molecular findings in five siblings with late-onset Pompe disease with marked phenotypic phenotype intrafamilial variability; however, in them the clinical picture was slowly progressive and all the symptoms and signs belonged to the musculoskeletal system exclusively, but with a constant phenotype that merely affected the skeletal muscle system.
Conclusion: This report, together to previous reports, confirm that the c.-32-12T›G mutation exerts an attenuating effect about c.1799G›A mutation and the combined effect of both produces a musculoskeletal phenotype.


REFERENCES

  1. Herzog A, Hartung R, Reuser AJJ, Hermanns P, Runz H, Karabul N, et al. A cross-sectional single-centre study on the spectrum of Pompe disease, German patients: molecular analysis of the GAA gene, manifestation and genotypephenotype correlations. Orphanet J Rare Dis 2012;7:35-48. doi: 10.1186/1750-1172-7-35.

  2. Sifi Y, Medjroubi M, Froissart R, Taqhane N, Sifi K, Benhabiles A, et al. Clinical analysis of Algerian patients with Pompe disease. J Neurodegener Dis 2017;2017:9427269. doi: 10.1155/2017/9427269.

  3. Chien YH, Hwu WL, Lee NC. Pompe disease: Early diagnosis and early treatment make a difference. Pediatr Neonatol 2013;54:219-227. doi: 10.1016/j.pedneo.2013.03.009.

  4. Dagnino F, Stroppiano M, Regis S, Bonucelli G, Filocamo M. Evidence for a founder effect in Sicilian patients with glycogen storage disease type II. Hum Hered 2000:50:331- 333. DOI: 10.1159/000022938.

  5. Shieh JJ, Lin CY. Frequent mutation in Chinese patients with infantile type of GSD II in Taiwan: Evidence for a founder effect. Human Mutat 1998;11:306-312. DOI: 10.1002/ (SICI)1098-1004(1998)11:4<306::AID-HUMU8>3.0.CO;2-S.

  6. Papadopulos C, Papadimas GK, Michelakakis H, Kararizou E, Manta P. Highlighting intrafamilial clinical heterogeneity in late-onset Pompe disease. Mol Genet Metab Rep 2014;1:2- 4. DOI: 10.1016/j.ymgmr.2013.10.002.

  7. Wens SC, van Gelder CM, Kruijshaar ME, de Vries JM, van der Beek NA, Reuser AJ, et al. Phenotypical variation within 22 families with Pompe disease. Orphanet J Rare Dis 2013;8:182-167.

  8. Rábago-Rodríguez MR, Castro-Tarín M, García-Ortiz JE, Ortiz- Aranda M, Arellano-Valdés CA, Moreno-Gómez L. Guía de práctica clínica. Diagnóstico y tratamiento de la glucogenosis tipo II (enfermedad de Pompe). México: Secretaría de Salud. Available at: http://www.cenetec.salud.gob.mx/ descargas/gpc/CatalogoMaestro/506_GPC_EnfPompe/ GER_GlucogenosisII_Pompe.pdf. (Acceso el 04 Dic 2017).

  9. Nazari F, Sinaei F, Nilipour Y, Fatehi F, Streubel B, Ashrafi MR, et al. Late-onset pompe disease in Iran, a clinical and genetic report. Muscle Nerve 2017;55:835-840. doi: 10.1002/mus.25413.

  10. Bonnefoy R, Labarthe F, Paoli F, Chantreuil J, Barthez MA, Froissart R. Enzyme replacement therapy in a boy with infantile Pompe disease: cardiac follow-up. Arch Pediatr 2008;15:1760-1774. doi: 10.1016/j.arcped.2008.09.014.




2020     |     www.medigraphic.com