Rs60831116

DERMATOPATHIA PIGMENTOSA RETICULARIS

Studying a family from the United States with the diagnosis of dermatopathia pigmentosa reticularis (DPR; 125595), first reported by Heimer et al. (1992), Lugassy et al. (2006) demonstrated a heterozygous C-to-A transversion at cDNA position 54 of KRT14, resulting in the nonsense mutation cys 18 to ter (C18X).