Gaucher disease in Colombia: Mutation identification and comparison to other hispanic populations

Pomponio, Robert J.; Cabrera-Salazar, Mario A.; Echeverri, Olga; Miller, G.; Barrera, Luis Alejandro

doi:10.1016/j.ymgme.2005.07.026

Cited by 13 publications

(21 citation statements)

References 22 publications

Supporting

Mentioning

Contrasting

Unclassified

Order By: Relevance

“…Coding regions and flanking sequences of the acid ␤-glucosidase gene (GBA) were analyzed. 16 CYP2D6 genotyping categorized patients from poor to ultra-rapid metabolizers. 10 The chitotriosidase gene (CHIT1) was assessed for the common inactivating mutation.…”

Section: Study Assessmentsmentioning

confidence: 99%

A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1

Lukina

Watman

Arreguin

et al. 2010

Blood

140

123

View full text Add to dashboard Cite

show abstract

Section: Study Assessmentsmentioning

confidence: 99%

A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1

Lukina

Watman

Arreguin

et al. 2010

Blood

140

123

View full text Add to dashboard Cite

show abstract

“…Algumas mutações têm atividade residual alta, mais são instáveis nas células de pacientes, tendo uma degradação no retículo endoplasmático independente de sua atividade residual (Ron & Horowitz, 2005 Alfonso et al, 2001;Beutler et al, 2005). Um trabalho recente, realizado na Colômbia, foi o primeiro a detectar mutações no gene GBA utilizando a técnica de dHPLC e apresentou alta sensibilidade (Pomponio et al, 2005).…”

Section: Penetrância Reduzida Do Genótipo N370s/n370sunclassified

“…O uso do dHPLC na análise do gene GBA foi descrito apenas uma vez, num estudo Colombiano, onde permitiu identificar todas as mutações presentes em 25 pacientes (Pomponio et al, 2005). Esse estudo fez uso da Platinum Taq (Invitrogen, EUA), ao passo que aqui se utilizou uma Taq polimerase de qualidade inferior.…”

Section: B) E326k: Modificador Fenotípicounclassified

“…Esse estudo fez uso da Platinum Taq (Invitrogen, EUA), ao passo que aqui se utilizou uma Taq polimerase de qualidade inferior. Ao passo que Pomponio et al, (2005) Filocamo et al, 2002).…”

Section: B) E326k: Modificador Fenotípicounclassified

“…(Gojobori et al, 1982;Cooper & Krawczak, 1990) e também no gene GBA, encontrada em 54% de 120 mutações estudadas (Kosaki et al, 2005). Jones et al, 1999;Bennett et al, 2001;Pfeiffer et al, 2002;Kosaki et al, 2005;Pomponio et al, 2005…”

Section: B) E326k: Modificador Fenotípicounclassified

See 2 more Smart Citations

"Análise molecular das doenças de Gaucher e Tay-Sachs no Brasil"

Rozenberg¹

View full text Add to dashboard Cite

Neuraminidase (SIALIDOSE) β-glicosidase ácida (DOENÇA DE GAUCHER) α-galactosidase A (DOENÇA DE FABRY) β-hexosaminidase A e B (DOENÇA DE SABDHOFF) galactocerebrosidase (DOENÇA DE KRABBE) arilsulfatase A (LEUCODISTROFIA METACROMÁTICA) Gangliosídeo G M2 Gangliosídeo G M3 Ceramida di-hexose Ceramida tri-hexose Glicocerebrosídeo esfingomielinase (DOENÇA DE NIEMANN-PICK) ceramidase (DOENÇA DE FARBER)

show abstract

Genetic characterization of the Albanian Gaucher disease patient population

et al. 2020

View full text Add to dashboard Cite

Gaucher disease (GD) is a recessive metabolic disorder caused by a deficiency of the GBA gene-encoded enzyme β-glucocerebrosidase. We characterized a cohort of 36 Albanian GD patients, 31 with GD type 1 and 5 affected by GD types 2, 3, and an intermediate GD phenotype between type 2 and type 3. Of the 12 different GBA alleles that we detected, the most frequently observed was p.Asn409Ser, followed by p.[Asp448His;His294Gln]. The prevalence of the p.Leu483Pro allele was approximately 10-fold lower than reported in other populations. We identified a novel pathogenic missense variant (c.1129G>A; p.Ala377Thr). All five of our non-type 1 patients had genotypes consisting of the p.[Asp448His;His294Gln] allele in combination with another severe GBA allele. The median Lyso-Gb1 level of treated patients carrying the p.[Asp448His;His294Gln] and no p.Asn409Ser allele was significantly higher than that of treated individuals homozygous or compound heterozygous for the p.Asn409Ser allele. In conclusion, the most important distinguishing features of the Albanian GD patient population are the underrepresentation of the p.Leu483Pro allele and an unusually high number of p.[Asp448His;His294-Gln] alleles originating from a common Balkan founder event. The presence of at least one p.Asn409Ser allele is associated with mild disease and low Lyso-Gb1 biomarker levels, while compound heterozygosity involving p.[Asp448His;His294Gln] and no p.Asn409Ser entails severe phenotypes and high Lyso-Gb1 levels.

show abstract

Gaucher disease in Colombia: Mutation identification and comparison to other hispanic populations

Cited by 13 publications

References 22 publications

A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1

A phase 2 study of eliglustat tartrate (Genz-112638), an oral substrate reduction therapy for Gaucher disease type 1

"Análise molecular das doenças de Gaucher e Tay-Sachs no Brasil"

Genetic characterization of the Albanian Gaucher disease patient population

Contact Info

Product

Resources

About