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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Novel C16orf57 mutations in patients with Poikiloderma with Neutropenia: bioinformatic analysis of the protein and predicted effects of all reported mutations

Figure 2

Pedigrees of index cases and genomic and cDNA characterisation of their C16orf57 homozygous mutations. Pedigrees of patients #25 (A), #16 (B), #17a (C), #21 (D), #26 (E) and #11 (F). Arrows indicate index cases. Direct sequencing of genomic DNA shows homozygous mutations in all cases: c.693+1G>T affecting the IVS6 donor splice site in patient #25 (G), c.531delA in both patients #16 and #17a (H), nonsense c.232C>T in patient #21 (I), c.265+2T>G affecting the IVS2 donor splice site in patient #26 (J) and c.179delC in patient #11 (K). L, M, N show RT-PCR products from patients #17a, #21 and #26, respectively. C+ indicates the positive control with the cDNA source from a healthy individual; C- indicates the negative control with no cDNA added to the reaction; M indicates the molecular weight markers (Generuler DNA ladder mix 100 bp-Fermentas). O, P,Q the corresponding sequencing of mutant transcripts.

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Orphanet Journal of Rare Diseases

ISSN: 1750-1172