A Filipino Child with Schinzel-Giedion Syndrome

Abstract

Schinzel-Giedion syndrome is a rare condition characterized by dysmorphic features, neurologic features, urogenital abnormalities, and radiographic changes. The etiology has been traced to mutations in the SETBP1 gene. We report a Filipino patient with features suggestive of Schinzel-Giedion Syndrome and the first to be confirmed through molecular testing.

Novel SETBP1 D874V adjacent to the degron causes canonical schinzel–giedion syndrome: a case report and review of the literature

“…As far as we know, all reported cases of classical SGS meeting the diagnostic criteria proposed by Lehman and colleagues have exhibited missense variants within a 12-basepair hotspot located in exon 4 of the SETBP1 gene (Table 1) [4,[6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21][22][23]. This hotspot, which encodes four amino acid residues (D868, S869, G870, and I871), known as the degron, is located within the SKI homologous region of the SETBP1 protein and is a critical site for substrate recognition by the cognate SCF-β-TrCP E3 ubiquitin ligase [4,12].…”