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Fig. 1 | BMC Medical Genomics

Fig. 1

From: Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications

Fig. 1

A: Family trees (drawn by PowerPoint2020);Family B was inherited in a typical companion X chromosome recessive manner, with male onset only. The proband (III:4) was hemizygous, his mother II:4 and grandmother I:2 were carriers, and II:5 was also hemizygous. B: DNA sequencing results, two mutations were found on probands: c.1492dupT/p.(Y498Lfs*15) in family A and c.1616delG/p.(R539Kfs*2) in family B. C1: Amino acid conservation analysis of mut1: c.1492dupT/p.(Y498Lfs*15). C2: Amino acid conservation analysis of mut2: c.1616delG/p.(R539Kfs*2).

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BMC Medical Genomics

ISSN: 1755-8794

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