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Fig. 1 | Orphanet Journal of Rare Diseases

Fig. 1

From: Delayed diagnosis of Peutz–Jeghers syndrome due to pathological information loss or mistake in family/personal history

Fig. 1

Pedigrees and genetic information on the PJS families. a The genograms (Squares = males, and circles = females; left half black symbols = mucocutaneous pigmentation, quart-pink = cancer, and quart-red = LGIB; E = examination and ±  = positive/negative; an oblique line indicates a deceased individual; the index patient is indicated by an arrow.) b The structure of the STK11 gene and the location of the 3 mutations are showed. For c.536C > A, c PolyPhen-2 score for this mutation is 1.000, indicating that it is probably damaging. AND (d) the local structures around the mutation site of the wild-type and mutant STK11 proteins generated by Swiss-model online software show obvious differences. e Sanger sequencing revealed 3 heterozygous mutations. LGIB lower gastrointestinal bleeding

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