Fig. 1

Prenatal diagnosis was applied in six pregnant female probands with molecular diagnosis. (A) Proband #1 showed huge fibromas on the back and left foot, with a heterozygous mutation in NF1 (c.5546G > C, p.R1849P) inherited from the father. (B) Café-au-lait spots presented on the trunk and neck for proband #2, with a heterozygous mutation in NF1 (c.5242 C > T, p.R1748X) inherited from the mother. (C) Multiple café-au-lait spots were found on the back and hand in proband #3, who carried a heterozygous de novo mutation in NF1 (c.1457delC, p.T486Kfs*12). (D) The asymptomatic case (#10) gave birth to a 4 years old girl with seizure. A heterozygous mutation in TSC1 (c.2127delG, p.R709Sfs*15) was identified in the mother, the daughter and the fetus. (E) Proband #19 showed skin itching and rash mainly on the head and face, with a heterozygous mutation in ATP2A2 (c.908 C > T, p.A303V) from her mother. (F) The patients from the autosomal dominant family showed mainly thick nails and palmoplantar keratosis. A heterozygous mutation in KRT16 (c.383T > C, p.L128P) was identified in all the patients and the fetus