PMC3447223_01
Facial patient's profile. Note absence of central incisor, repaired cleft lip and midface hypoplasia.
CRIM.GENETICS2011-703497.001.jpg
PMC3447223_01_CRIM.GENETICS2011-703497.001.jpg
fig1
Parents were nonconsanguineous, and the father had a repaired median cleft lip, absence of central incisors, facial medial hypoplasia, and cleft palate (Figure 1).
Nonsense heterozygous mutation at codon 127 of the SHH gene (W127X). This mutation causes a G for A transition at cDNA nucleotide 384 causing a substitution of tryptophan (TGG) for a stop codon (TGA) in exon 2 (c.384G A).
CRIM.GENETICS2011-703497.002.jpg
PMC3447223_01_CRIM.GENETICS2011-703497.002.jpg
fig2
Direct sequencing analysis of the complete SHH ORF in DNA from the father showed a nonsense mutation at codon 127 (W127X) (Figure 2).