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Erschienen in: Neurological Sciences 6/2019

14.02.2019 | Brief Communication

Maternal germline mosaicism in Fabry disease

verfasst von: Luigi Pianese, Antonio Fortunato, Serena Silvestri, Francesco G. Solano, Alberto Burlina, Alessandro P. Burlina, Michele Ragno

Erschienen in: Neurological Sciences | Ausgabe 6/2019

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Abstract

Fabry disease (FD) is an X-linked monogenic disorder caused by mutations in the GLA gene which leads to a deficiency of the functionally active lysosomal α-galactosidase A enzyme. Here, we report on a family of five members: unaffected parents, one unaffected son, and another son and daughter both carrying the same mutation (p.G138E) in the GLA gene. Genotype analysis using intragenic GLA markers confirmed the maternal origin of the mutation. The affected son and daughter carried the same mutation; however, it was not detected in the peripheral blood, buccal cells, and urinary sediment cells of their mother. Moreover, the unaffected son without the alteration in the GLA gene carried the same maternal chromosome X (disease-associated) haplotype. To the best of our knowledge, this study represents the first case of maternal germline mosaicism in FD.
Literatur
2.
Zurück zum Zitat Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR (2018) Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab 123:416–427CrossRefPubMed Ortiz A, Germain DP, Desnick RJ, Politei J, Mauer M, Burlina A, Eng C, Hopkin RJ, Laney D, Linhart A, Waldek S, Wallace E, Weidemann F, Wilcox WR (2018) Fabry disease revisited: management and treatment recommendations for adult patients. Mol Genet Metab 123:416–427CrossRefPubMed
3.
Zurück zum Zitat Smid BE, van der Tol L, Biegstraaten M, Linthorst GE, Hollak CE, Poorthuis BJ (2015) Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease. J Med Genet 52:262–268CrossRefPubMed Smid BE, van der Tol L, Biegstraaten M, Linthorst GE, Hollak CE, Poorthuis BJ (2015) Plasma globotriaosylsphingosine in relation to phenotypes of Fabry disease. J Med Genet 52:262–268CrossRefPubMed
4.
Zurück zum Zitat Echevarria L, Benistan K, Toussaint A, Dubourg O, Hagege AA, Eladari D, Jabbour F, Beldjord C, De Mazancourt P, Germain DP (2016) X-chromosome inactivation in female patients with Fabry disease. Clin Genet 89:44–54CrossRefPubMed Echevarria L, Benistan K, Toussaint A, Dubourg O, Hagege AA, Eladari D, Jabbour F, Beldjord C, De Mazancourt P, Germain DP (2016) X-chromosome inactivation in female patients with Fabry disease. Clin Genet 89:44–54CrossRefPubMed
5.
Zurück zum Zitat Gal A, Hughes DA, Winchester B (2011) Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group. J Inherit Metab Dis 34:509–514CrossRefPubMedPubMedCentral Gal A, Hughes DA, Winchester B (2011) Toward a consensus in the laboratory diagnostics of Fabry disease - recommendations of a European expert group. J Inherit Metab Dis 34:509–514CrossRefPubMedPubMedCentral
6.
Zurück zum Zitat Dobrovolný R, Dvoráková L, Ledvinová J, Magage S, Bultas J, Lubanda JC, Poupetová H, Elleder M, Karetová D, Hrebícek M (2005) Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase a gene mutation. Am J Med Genet A 134:84–87CrossRef Dobrovolný R, Dvoráková L, Ledvinová J, Magage S, Bultas J, Lubanda JC, Poupetová H, Elleder M, Karetová D, Hrebícek M (2005) Recurrence of Fabry disease as a result of paternal germline mosaicism for alpha-galactosidase a gene mutation. Am J Med Genet A 134:84–87CrossRef
7.
Zurück zum Zitat Polo G, Burlina AP, Kolamunnage TB, Zampieri M, Dionisi-Vici C, Strisciuglio P, Zaninotto M, Plebani M, Burlina AB (2017) Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS. Clin Chem Lab Med 55:403–414CrossRefPubMed Polo G, Burlina AP, Kolamunnage TB, Zampieri M, Dionisi-Vici C, Strisciuglio P, Zaninotto M, Plebani M, Burlina AB (2017) Diagnosis of sphingolipidoses: a new simultaneous measurement of lysosphingolipids by LC-MS/MS. Clin Chem Lab Med 55:403–414CrossRefPubMed
8.
Zurück zum Zitat Ishii S, Nakao S, Minamikawa-Tachino R, Desnick RJ, Fan JQ (2002) Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype. Am J Hum Genet 70:994–1002CrossRefPubMedPubMedCentral Ishii S, Nakao S, Minamikawa-Tachino R, Desnick RJ, Fan JQ (2002) Alternative splicing in the alpha-galactosidase A gene: increased exon inclusion results in the Fabry cardiac phenotype. Am J Hum Genet 70:994–1002CrossRefPubMedPubMedCentral
9.
Zurück zum Zitat Bono C, Nuzzo D, Albeggiani G, Zizzo C, Francofonte D, Iemolo F, Sanzaro E, Duro G (2011) Genetic screening of Fabry patients with EcoTILLING and HRM technology. BMC Res Notes 4:323CrossRefPubMedPubMedCentral Bono C, Nuzzo D, Albeggiani G, Zizzo C, Francofonte D, Iemolo F, Sanzaro E, Duro G (2011) Genetic screening of Fabry patients with EcoTILLING and HRM technology. BMC Res Notes 4:323CrossRefPubMedPubMedCentral
10.
Zurück zum Zitat Germain DP, Shabbeer J, Cotigny S, Desnick RJ (2002) Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes. Mol Med 8:306–312CrossRefPubMedPubMedCentral Germain DP, Shabbeer J, Cotigny S, Desnick RJ (2002) Fabry disease: twenty novel alpha-galactosidase A mutations and genotype-phenotype correlations in classical and variant phenotypes. Mol Med 8:306–312CrossRefPubMedPubMedCentral
11.
Zurück zum Zitat Ferri L, Guido C, la Marca G, Malvagia S, Cavicchi C, Fiumara A, Barone R, Parini R, Antuzzi D, Feliciani C, Zampetti A, Manna R, Giglio S, Della Valle CM, Wu X, Valenzano KJ, Benjamin R, Donati MA, Guerrini R, Genuardi M, Morrone A (2012) Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene. Clin Genet 81(3):224–233CrossRefPubMed Ferri L, Guido C, la Marca G, Malvagia S, Cavicchi C, Fiumara A, Barone R, Parini R, Antuzzi D, Feliciani C, Zampetti A, Manna R, Giglio S, Della Valle CM, Wu X, Valenzano KJ, Benjamin R, Donati MA, Guerrini R, Genuardi M, Morrone A (2012) Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene. Clin Genet 81(3):224–233CrossRefPubMed
Metadaten
Titel
Maternal germline mosaicism in Fabry disease
verfasst von
Luigi Pianese
Antonio Fortunato
Serena Silvestri
Francesco G. Solano
Alberto Burlina
Alessandro P. Burlina
Michele Ragno
Publikationsdatum
14.02.2019
Verlag
Springer International Publishing
Erschienen in
Neurological Sciences / Ausgabe 6/2019
Print ISSN: 1590-1874
Elektronische ISSN: 1590-3478
DOI
https://doi.org/10.1007/s10072-019-03754-1

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