A New MEN2 Syndrome with Clinical Features of Both MEN2A and MEN2B Associated with a New RET Germline Deletion

Figure 3

The RET germline deletion in exon 11 of our patient. (a) Sanger sequence analysis of the constitutive DNA showing the heterozygous germline deletion of 6 nucleotides (C GAG CT) that determined an “in frame” deletion of the RET gene at the level of codons 631–633 in exon 11. (b) The deletion involved the third nucleotide (i.e., C nucleotide) of codon 631, the entire codon 632, and the first two nucleotides of codon 633 (i.e., C and T nucleotides). With this deletion, codon 631 returned in frame with the third nucleotide of codon 633 (G nucleotide), changing codon 631 from aspartate (Asp) to glutamic acid (Glu).

(a)

(b)