Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence

Giulia Canu; Giorgia Mazzuccato; Andrea Urbani; Angelo Minucci

doi:10.1038/hgv.2017.57

Report of an Italian family carrying a typical Indian variant of the Nilgiris tribal groups resulting from a de novo occurrence

Hum Genome Var. 2018 Jan 4:5:17057. doi: 10.1038/hgv.2017.57. eCollection 2018.

Authors

Giulia Canu¹, Giorgia Mazzuccato¹, Andrea Urbani^{1

2}, Angelo Minucci¹

Affiliations

¹ Department of Diagnostic and Laboratory Medicine, Institute of Biochemistry and Clinical Biochemistry, 'Agostino Gemelli' Foundation, Rome, Italy.
² Proteomics and Metabolomics Unit, IRCCS- 'Santa Lucia' Foundation, Rome, Italy.

Abstract

G6PD deficiency is quite common in Italy where it is characterized by extreme molecular and biochemical heterogeneity. We report a 15-year-old Italian boy with G6PD Nilgiri (c.593G>A, p.Arg198His), a typical Indian variant of the Nilgiris tribal groups. Further, this variant was biochemically characterized, and the molecular screening of the family highlighted a de novo mutational event. To date, this family is the first Caucasian family carrying the G6PD Nilgiri variant.