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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
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Human Genomics

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