Velho Renata Voltolini, Alegra Taciane, Sperb Fernanda, Ludwig Nataniel Floriano, Saraiva-Pereira Maria Luiza, Matte Ursula, Schwartz Ida V D
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.
Genetics and Molecular Biology Postgraduate Program, Universidade Federal do Rio Grande do Sul, Porto Alegre, RS, Brazil.
Mol Genet Metab Rep. 2014 Feb 27;1:98-102. doi: 10.1016/j.ymgmr.2014.01.002. eCollection 2014.
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 the gene. 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 a or maternal germline mutation. This is the first report of a mutation in ML III gamma. This finding has significant implications for genetic counseling.
黏脂贮积症III型（ML III）γ是一种非常罕见的常染色体隐性疾病，其特征是由于该基因的突变导致溶酶体酶的异常运输和亚细胞定位。本研究报告了一名巴西复合杂合子患者，其患有ML IIIγ，该病症由一个突变的父本等位基因和一个很可能发生了剪接或母系生殖系突变的等位基因引起。这是ML IIIγ中剪接突变的首次报告。这一发现对遗传咨询具有重要意义。
