Here I present: “Autosomal Recessive Congenital Ichthyosis”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 常染色体隐性先天性鱼虫病。(ARCI4).
INTRODUCTION.
Ichthyosis (also named fish scale disease) is a family of genetic skin disorders characterized by dry, thickened, scaly skin. The more than 20 types of ichthyosis range in severity of symptoms, outward appearance, underlying genetic cause and modes of inheritance.
Autosomal Recessive Congenital Ichthyosis is a type of ichthyosis family of skin diseases.
The diseases that come under the term autosomal recessive congenital ichthyosis include harlequin ichthyosis and lamellar ichthyosis.
Chromosome #2 has the pair of ichthyosis diseases ARCI4A and ARCI4B on cytogenetic location 2q35 at the genomic coordinates 2:214,931,542-215,138,626 . Mutations in ATP-binding cassette, A-subfamily, member-12 gene (ABCA12) are the causes both these ichthyosis diseases. The screenshot of the ABCA12 gene bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides ABCA12 in the 2q35 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 2:214,411,054 | VWC2L | von Willebrand factor C domain protein 2 |
| 2:214,500,001 | MTBS1 | Mycobacterium tuberculosis, susceptibility |
| 2:214,500,001 | NBLST5 | Neuroblastoma, susceptibility to, 5 |
| 2:214,725,646 | BARD1 | BRCA1-associated RING domain 1 |
| 2:214,931,542 | ABCA12 | ATP-binding cassette, A-member, 12 |
| 2:215,312,059 | ATIC | IMP cyclohydrolase |
| 2:215,360,865 | FN1 | Fibronectin-1 |
| 2:215,939,308 | MREG | Melanoregulin |
| 2:216,029,088 | PECR | Peroxisomal trans-2-enoyl-CoA reductase |
| 2:216,109,348 | XRCC5 | X-ray repair cross complementing 5 |
