Here I present: “Red-hair Adrenal-obesity”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 红发肾上腺-肥胖。(OBAIRH).
INTRODUCTION.
Red-hair Adrenal-obesity goes by technical term Pro-opiomelanocortin deficiency (POMC), and is a form of monogenic obesity resulting in severe early-onset, adrenal insufficiency, pale skin, and red hair.
Early-onset obesity with adrenal insufficiency and red hair (OBAIRH) is an autosomal recessive endocrine disorder characterized by early-onset obesity due to severe hyperphagia, pigmentary abnormalities, mainly pale skin and red hair, and secondary hypocortisolism. In the neonatal period, affected individuals are prone to hypoglycemia, hyperbilirubinemia, and cholestasis that may result in death if not treated.
The disorder results from mutation in the POMC gene, which encodes a preproprotein that is processed into a range of bioactive peptides, including alpha-melanocyte-stimulating hormone (MSH) and adrenocorticotropic hormone (ACTH).
(OBAIRH) is caused by homozygous or compound heterozygous mutation in the pro-ACTH-endorphin (POMC) gene on cytogenetic location 2p23.3
and genomic coordinates 2:25,160,860-25,168,580 . The screenshot of the POMC gene 7,721 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides POMC in the 2p23.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 2:24,793,425 | CENPO | Centromeric protein O |
| 2:24,819,169 | ADCY3 | Adenylate cyclase-3 |
| 2:24,943,636 | DNAJC27 | DNAJ/HSP40 homolog C, member 27 |
| 2:25,042,076 | EFR3B | EFR3 homolog B |
| 2:25,160,860 | POMC | Proopiomelanocortin |
| 2:25,227,874 | DNMT3A | DNA methyltransferase 3A |
| 2:25,377,243 | DTNB | Dystrobrevin, beta |
| 2:25,733,753 | ASXL2 | ASXL transcriptional regulator 2 |
| 2:25,926,598 | KIF3C | Kinesin family member 3C |
| 2:26,033,285 | RAB10 | Ras-associated protein |
