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Fig. 1 | BMC Medical Genetics

Fig. 1

From: First evidence of maternally inherited mosaicism in TGFBR1 and subtle primary myocardial changes in Loeys-Dietz syndrome: a case report

Fig. 1

Family trios Sequence analysis on genomic DNA extracted from peripheral blood shows the heterozygous missense mutation c.1460G > A (p.Arg487Gln) in TGFBR1. Genetic characterization shows proband heterozygous status while the mother is in mosaic heterozygous (a). MosaicTGFBR1 mutation in maternal samples. Next-generation sequencing detects a heterozygous c.1460G > A (p.Arg487Gln) mutation in 18% in buccal cells (b) and 10% in hair root cells (c)

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BMC Medical Genetics

ISSN: 1471-2350

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