Fig. 2
From: Whole-exome sequencing enables rapid and prenatal diagnosis of inherited skin disorders
The other cases with positive genetic findings. (A) Skin pruritus and rash mainly affected the head, face and trunk of proband #20, with a heterozygous missense mutation in ATP2A2 (c.2381T > A, p.V794D). (B) A heterozygous missense mutation in COL7A1 (c.6110G > T, p.G2037V) was identified in proband #6, presented with blisters on the extensor side of the extremities and positive Nissl‘s sign. (C) Proband #22 showed linear-distributed pigmented macula on the trunk, with a heterozygous framshift mutation in IKBKG (c.1371insC, p.E458Rfs*5) inherited in an X-linked dominant way. (D) Proband #23 showed large erythema on his hands, feet, bilateral knee joints and elbow joints, accompanied by keratinization and peeling. A homozygous nonsense mutation in SERPINB7 (c.796 C > T, p.R266X) was inherited from non-consanguineous parents. (E) Clinical features of proband #18 showed dry skin with scaly desquamation involving the limbs and trunk since birth. A hemizygous deletion of Xp22.31 involving STS was identified by WES. (F) The proband #14, with typical ocular skin albinism, carried a compound heterozygous mutation in TYR (c.230_232dupGGG, p.R77_E78insG; c.1445 C > A, p.A482E)