Genomic coordinate 8:38,142,700
Here I present: “Lipoid Adrenal Hyperplasia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 脂質腎上腺增生。icd10=E25.0
INTRODUCTION.
Lipoid adrenal hyperplasia, the most severe disorder of steroid hormone biosynthesis, is caused by a defect in the conversion of cholesterol to pregnenolone, the first step in adrenal and gonadal steroidogenesis. All affected individuals are phenotypic females with a severe salt-losing syndrome that is fatal if not treated in early infancy.
Lipoid adrenal hyperplasia is an endocrine disorder that is potentially lethal form of congenital adrenal hyperplasia (CAH). It arises from defects in the earliest stages of steroid hormone synthesis: the transport of cholesterol into the mitochondria and the conversion of cholesterol to pregnenolone—the first step in the synthesis of all steroid hormones. Lipoid CAH causes mineralocorticoid deficiency in affected infants and children. Male infants are severely undervirilized causing their external genitalia to look feminine. The adrenals are large and filled with lipid globules derived from cholesterol.
There is evidence that lipoid congenital adrenal hyperplasia (LCAH) is caused by homozygous or compound heterozygous mutation in the gene encoding steroidogenic acute regulatory protein (STAR) on cytogenetic location 8p11.23 and genomic coordinates 8:38,142,700-38,150,952. The screenshot of the STAR gene 8,253 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides STAR in the 8p11.23 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 8:37,858,618 | RAB11FIP1 | RAB11 family-interacting protein 1 |
| 8:37,962,990 | ADRB3 | Adrenergic, beta-3-, receptor |
| 8:38,030,534 | EIF4EBP1 | Eukaryotic translation initiation factor-4E binding protein-1 |
| 8:38,105,493 | ASH2L | ASH2, Drosophila, homolog of |
| 8:38,142,700 | STAR | Steroidogenic acute regulatory protein |
| 8:38,163,321 | LSM1 | LSM1 homolog, mRNA degradation-associated |
| 8:38,176,855 | BAG4 | BAG cochaperone 4 |
| 8:38,231,585 | DDHD2 | DDHD domain-containing protein 2 |
| 8:38,263,130 | PLPP5 | Phospholipid phosphatase 5 |
| 8:38,269,704 | NSD3 | Nuclear receptor-binding SET domain protein 3 |
