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. 2018 Apr 30;115(20):5241–5246. doi: 10.1073/pnas.1801796115

Fig. 1.

Fig. 1.

Genetic and clinical features of the families. (A, Top) Coinheritance of BRCA1 p.W372X (c.1115G > A, NM_007294.3) with chromosomal breakage and congenital anomalies. (A, Middle) Example of a radial chromosome from patient A.II.4. (A, Bottom) Sequence at BRCA1 c.1115G > A from skin fibroblasts of A.II.4, indicating no reversion of the mutant to a wild-type sequence. (B, Top) Coinheritance of BRCA1 p.L431X (c.1151T > G, NM_007294.3) chromosomal breakage and congenital anomalies. (B, Bottom) Sequence at BRCA1 p.L431X (c.1151T > G) from B.II.4 compared with his father, B.I.2, indicating no reversion of the mutant to a wild-type sequence. Arrows in sequence traces indicate variant sites. N, reference allele; V, variant allele.