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Allelic variants.0001 PROOPIOMELANOCORTIN DEFICIENCY POMC, GLU79TER In a 3-year-old German girl with early-onset obesity, adrenal insufficiency due to ACTH deficiency, and red hair (609734), Krude etal. (1998) identified compound heterozygosity for 2 mutations in exon 3of the POMC gene. A 7013G-T transversion in the paternal allele resulted in a glu79-to-ter (G79X) substitution. Truncation of the POMC protein atcodon 79 predicted complete absence of ACTH, alpha-MSH, andbeta-endorphin, encoded further downstream. In the maternal allele, a1-bp deletion (nucleotide 7133) caused a frame shift predicted to disrupt the structure of the receptor-binding core motif of ACTH and alpha-MSHand introduced a premature termination at codon 131. Compound heterozygosity for these 2 mutations was found not only in the proband,the second-born daughter of the family, but also in the first-born son who died at 7 months of age of hepatic failure following severe cholestasis...