Here I present: “Bjornstad Syndrome (pili-torti deafness)”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 比约恩斯塔德综合症。(BJS).
INTRODUCTION.
Björnstad syndrome (BJS) is an autosomal recessive congenital condition involving pili torti, sensorineural deafness, and hair abnormalities. It was first characterized in 1965, in Oslo, by professor Roar Theodor Bjørnstad after he observed an association between pili torti and hearing loss.
There is evidence that Bjornstad syndrome (BJS) is caused by homozygous or compound heterozygous mutation in the BCS1L gene on cytogenetic location 2q35 and genomic coordinates 2:218,658,743-218,663,443 . The screenshot of the BCS1L gene 4,701 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides BCS1L in the 2q35 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 2:218,450,251 | USP37 | Ubiquitin-specific peptidase 37 |
| 2:218,568,839 | CNOT9 | CCR4-NOT transcription complex subunit 9 |
| 2:218,607,899 | PLCD4 | Phospholipase C, delta-4 |
| 2:218,633,329 | ZNF142 | Zinc finger protein-142 |
| 2:218,658,743 | BCS1L | BCS1 homolog |
| 2:218,663,892 | RNF25 | Ring finger protein 25 |
| 2:218,672,086 | STK36 | Serine/threonine protein kinase 36 |
| 2:218,710,835 | TTLL4 | Tubulin tyrosine ligase-like 4 |
| 2:218,782,147 | CYP27A1 | Cytochrome P450, subfamily XXVIIA, polypeptide 1 |
| 2:218,822,308 | PRKAG3 | Protein kinase, AMP-activated, noncatalytic, gamma 3 |
