Novel frameshift mutation of the DSRAD gene in a Chinese family with dyschromatosis symmetrica hereditaria

Abstract

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A novel P53/POMC/Gαs/SASH1 autoregulatory feedback loop activates mutated SASH1 to cause pathologic hyperpigmentation

“…mapped the causative gene of DSH to 1q11‐1q21 and found that a novel mutation of a heterozygous nucleotide A→G at position 2879 in exon 10 of the DSRAD gene is involved in DSH . Subsequent research on dyspigmentation has demonstrated that the pathogenic genetic variant that causes DSH is localized to the DSRAD gene on chromosome 1q . Expanding Stuhrmann and Nuber's findings and our own previous work providing photographic evidence of dyschromatosis presenting as large hyperpigmented bodies on DUH‐affected individuals , we believe that we have discovered the first locus associated with autosomal‐dominant DUH, identifying SASH1 as the causative gene of autosomal‐dominant DUH.…”

Dyschromatosis symmetrica hereditaria: report of a sporadic case

“…The transmission pattern of the DSH is dominant autosomal and it is known since the year 2003 that the genetic mutation in the chromosome 1q11‐1q21, a double‐stranded RNA‐specific adenosine deaminase (DSRAD) gene, is responsible for the altered production or distribution of the melanin to the units of epidermal melanization 10,11 . At present, more than 60 mutations of this gene have been reported, most of them in oriental individuals who suffer from DSH, but it is not possible to establish a clear correlation between the clinical phenotype and the type of mutation of the DSRAD 12–17 gene. Rare spontaneous cases and cases of autosomal recessive type have been described, mainly in the West 2,7 .…”

A Novel P53/POMC/Gas/SASH1 Autoregulatory Feedback Loop and Pathologic Hyperpigmentation

“…Zhang et al mapped the causative gene of DSH to 1q11-1q21 and found that a novel mutation of a heterozygous nucleotide A → G at position 2879 in exon 10 of the DSRAD gene is involved in DSH [35]. Subsequent research on dyspigmentation has demonstrated that the pathogenic genetic variant that causes DSH is localized to the DSRAD gene on chromosome 1q [15,[36][37][38][39][40][41]. Expanding Stuhrmann and Nuber's findings and our own previous work providing photographic evidence of dyschromatosis presenting as large hyperpigmented bodies on DUH-affected individuals [6,8,34], we believe that we have discovered the first locus associated with autosomal dominant DUH, identifying SASH1 as the causative gene of autosomal dominant DUH.…”