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Figure 2 | International Journal of Pediatric Endocrinology

Figure 2

From: Early onset obesity and adrenal insufficiency associated with a homozygous POMC mutation

Figure 2

Patient pedigree and POMC gene mutation analysis. (A) Pedigree of the nuclear family with mutation status noted. (B) Sequence chromatograms: wildtype sequence (left) with a C at nucleotide position 231 of the POMC gene, patient (middle) with homozygous substitution of A for C resulting in tyrosine at amino acid position 77 (p.Y77x), a premature stop codon and parental sequence (right) demonstrates heterozygote C to A substitution represented by the letter M (arrow).

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