title: Ade novoor germline mutation in a family with Mucolipidosis III gamma: Implications for molecular diagnosis and genetic counseling.
abstract: Mucolipidosis III (ML III) gamma is a very rare autosomal-recessive disorder characterized by the abnormal trafficking and subcellular localization of lysosomal enzymes due to mutations in theGNPTGgene. The present study consists of a report of a Brazilian compound heterozygote patient with ML III gamma resulting from one mutant paternal allele and one allele that had most likely undergone ade novoor maternal germline mutation. This is the first report of ade novomutation in ML III gamma. This finding has significant implications for genetic counseling.
authors.affiliation: Gene Therapy Center, Experimental Research Center, Hospital de Clínicas de Porto Alegre, RS, Brazil; Genetics and Molecular Biology Postgraduate Program, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
authors.forename: Renata Voltolini
authors.initials: RV
authors.lastname: Velho
authors.affiliation: Genetics and Molecular Biology Postgraduate Program, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
authors.forename: Taciane
authors.initials: T
authors.lastname: Alegra
authors.affiliation: Gene Therapy Center, Experimental Research Center, Hospital de Clínicas de Porto Alegre, RS, Brazil; Postgraduation Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
authors.forename: Fernanda
authors.initials: F
authors.lastname: Sperb
authors.affiliation: Gene Therapy Center, Experimental Research Center, Hospital de Clínicas de Porto Alegre, RS, Brazil.
authors.forename: Nataniel Floriano
authors.initials: NF
authors.lastname: Ludwig
authors.affiliation: Genetics and Molecular Biology Postgraduate Program, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, RS, Brazil.
authors.forename: Maria Luiza
authors.initials: ML
authors.lastname: Saraiva-Pereira
authors.affiliation: Gene Therapy Center, Experimental Research Center, Hospital de Clínicas de Porto Alegre, RS, Brazil; Genetics and Molecular Biology Postgraduate Program, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
authors.forename: Ursula
authors.initials: U
authors.lastname: Matte
authors.affiliation: Genetics and Molecular Biology Postgraduate Program, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil; Department of Genetics and Molecular Biology, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil; Postgraduation Program in Medical Sciences, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil; Brain Laboratory, Experimental Research Center, Hospital de Clínicas de Porto Alegre, RS, Brazil; Medical Genetics Service, Hospital de Clínicas de Porto Alegre, RS, Brazil.
authors.forename: Ida V D
authors.initials: IV
authors.lastname: Schwartz
keywords: DNA mutational analysis; De novo mutation; Germline mutation; Molecular diagnostic; Mucolipidosis II/III