FIGURE 2
FROM:
Expanding the phenotype of craniofrontonasal syndrome: two unrelated boys with EFNB1 mutations and congenital diaphragmatic hernia
Pradeep C Vasudevan, Stephen R F Twigg, John B Mulliken, Jackie A Cook, Oliver W J Quarrell and Andrew O M Wilkie
BACK TO ARTICLEFigure 2.
Clinical features and mutation analysis of case 2 and family. (a) Case 2 showing hypertelorism. (b) Mother of case 2 exhibiting craniofacial asymmetry and sloping shoulders. (c and d) Maternal aunts of case 2. (e) Reverse sequence of EFNB1 exon 2 from case 2 and control DNA. Three nucleotides (shown shaded in control) are deleted in case 2 (151_153delGTG). (f) Confirmation of 151_153delGTG mutation. EFNB1 exon 2 was amplified8 and digested with HphI, a site for which is abolished by the mutation (normal allele 75, 125 and 167 bp; mutant allele, 197 and 167 bp). The expected normal allele products are present in the control; the mother and aunt illustrated in panel c show the heterozygous pattern; case 2 is hemizygous for the mutation. PCR product not digested with HphI (uncut) is 367 bp.
