Major clinical manifestations of the affected individuals.

<p>Major clinical manifestations of the affected individuals.</p

The conservation and domain structure of excision repair protein ERCC-6.

<p>A) Multiple sequence alignment of ERCC6 ATP-binding domain amino acids among homologous genes in mammals, reptile, nematode, oyster and insects both 532D and 536L heterozygous missense mutations are at a highly conserved position in <i>ERCC6</i>. B) The structure of CSB protein indicated that the two mutations D532G and L536W are located in motif I of the helicase domain. A, acidic amino acid stretch; G, glycine rich region; S, serine phosphorylation site preceded by a nuclear location signal; N, nucleotide binding fold; NTB, nucleotide binding fold; I, IA, and II-VI refer to the corresponding helicase motifs.</p

Compound heterozygous mutations and genomics structure of the exons of <i>ERCC6</i>.

<p>A) Pedigree of this family. Black symbols denote affected individuals, and open symbols denote unaffected individuals. B) The region of UTR (green) and coding (red) are listed in the <i>ERCC6</i> gene (upper panel). Sanger sequencing analysis of c.1607T->G (p.Leu536Trp) and c.1595A->G (p.Asp532Gly) mutations in five family members. The heterozygous missense mutation c.1607T->G was identified in proband’s father (Parent I:1), another heterozygous missense mutation c.1595A->G in proband’s mother (Parent I:2) and three affected sisters carried (Affected II:1, II:2, II:3) the compound heterozygous mutations.</p