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Table 3 Phenotypic heterogeneity of SLC29A3 gene mutations

From: Phenotypic intrafamilial variability including H syndrome and Rosai–Dorfman disease associated with the same c.1088G > A mutation in the SLC29A3 gene

SLC29A3 mutations Origin Intra-familial phenotypic variability Intra-individual overlap syndrome References
c.1279G > A, [p.Gly427Ser] Israel H syndrome/PHID: Spiegel et al.
c.1309G > A, [p.Gly437Arg]
c.1279G > A, [p.Gly427Ser] Egypt H syndrome/PHID Al-Haggar et al.
c.300 + 1G > C Morocco H syndrome/PHID/MRD/FHC Jesus et al.
c.1309G > A, [p.Gly437Arg] Palestine FHC/MRD Rossbach et al.
Morgan et al.
c.1088G > A, [p.Arg363Gln] Tunisia H syndrome/MRD This report
  1. PHID: Pigmented hypertrichosis with insulin-dependent diabetes mellitus syndrome; FHC: Faisalabad histiocytosis; RDD: Rosai–Dorfman disease