Genomic coordinate 8:11,842,524
Here I present: “Oudtshoorn Keratolytic Winter Erythema”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (KWE) 溶性角膜冬季流膜。icd10=L30.8
INTRODUCTION.
Oudtshoorn keratolytic winter erythema (KWE) is an autosomal dominant skin disease of unknown cause which causes redness and peeling of the skin on the palms and soles. Onset, increased prominence and severity usually occurs during winter. It is a type of genodermatosis. Genodermatosis are inherited in three (3) modes: single gene inheritance, multiple gene inheritance and chromosomal inheritance.
Oudtshoorn is a town in Western Cape, South Africa, where KWE (“Oudtshoorn skin“) was first described. The disorder is quite prevalent among Afrikaners of South Africa, a population which can be defined as caucasoid native-speakers of Afrikaans, with northwestern European lineage.
This relatively high rate of occurrence has been attributed to the founder effect, in which a small, consanguinous population is formed out of the larger ancestral population, resulting in a loss of genetic diversity. In the context of KWE, the founder effect was confirmed by haplotype analysis, which indicates that the chromosomal origin of a possible genetic mutation responsible for the disorder is particularly common among affected Afrikaners. This is also true in other South Africans of European descent with KWE, and the chromosome of interest in both these and Afrikaner patients strongly points to an unspecified ancestor or ancestral group that may have settled around the Oudtshoorn area.
Oudtshoorn Keratolytic winter erythema (KWE) is an epidermal disease, characterized by recurrent centrifugal palmoplantar peeling and erythema presenting seasonal variation (cold weather). Skin lesions may spread to the dorsum of hands and feet and to the interdigital spaces. Lower legs, knees and thighs may also be involved. Episodes may be preceded by itch and hyperhidrosis. Skin biopsy reveals an epidermal spongiosis with clefting in the stratum corneum, followed by regrowth. Oudtshoorn keratolytic winter erythema (KWE) follows an autosomal dominant mode of transmission.
Oudtshoorn keratolytic winter erythema (KWE) which manifests during childhood is known to be caused by mutation in the cathepsin-B gene CTSB (Enzyme Commission number EC 3.4.22.1) on cytogenetic location 8p23.1 and genomic coordinates 8:11,842,524-11,868,087. The screenshot of the CTSB gene 25,564 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides CTSB in the 8p23.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 8:11,494,387 | BLK | BLK protooncogene, SRC family tyrosinase kinase |
| 8:11,676,935 | GATA4 | GATA-binding protein-4 |
| 8:11,769,710 | NEIL2 | Endonuclease VIII-like 2 |
| 8:11,795,582 | FDFT1 | Farnesyl-diphosphate farnesyltransferase 1 |
| 8:11,842,524 | CTSB | Cathepsin B |
| 8:12,136,435 | USP17L2 | Ubiquitin specific peptidase 17-like family member 2 |
| 8:12,182,106 | FAM86B1 | Family with sequence similarity 86, member B1 |
| 8:12,424,421 | FAM86B2 | Family with sequence similarity 86, member B2 |
| 8:12,800,001 | ANIB11 | Aneurysm, intracranial berry, 11 |
| 8:12,800,001 | CHDS9 | Coronary heart disease, susceptibility to, 9 |
