Figure 1. Family pedigrees and DNA partial sequences showing mutations in respective genes.
A: Deletion (c.217_218delTC) in exon 2 of
CYP1B1 (OMIM:
601771) in blindness by glaucoma in Mauritanian family 1 (BGMF1).
B: Missense mutation (c.878C>A) in exon 3 (rs139122673) of
MYOC (OMIM:
60165) in BGMF2.
C: Missense mutation (c.601T>G) in exon 2 of
NTF4 (OMIM:
162662) in BGMF3.
D: Missense mutation (c.2078A>G) in exon 18 of
WDR36 in BGMF4.