Genomic coordinate 7: 2,512,529
Here I present: “LUNATIC FRINGE (Jarcho-Levin syndrome)”, Victor McKusick, Mendelian Inheritance in Man’, 1966. icd10=Q76.8
INTRODUCTION.
Lunatic fringe is a transcription factor that plays a crucial role in the development of the somites. Somites give rise to the skeletal muscle, the axial skeleton, the tendons, and the dorsal dermis. The somites are formed via the clock-wave front model, and as each somite is formed, each cell receives a burst of FGF8 (a signaling molecule). Somites are formed anterior to posterior, and since FGF8 has a short half-life, this leads to a greater concentration of FGF8 in the posterior, and a lesser concentration in the anterior. Lunatic fringe responds to the lower concentration of FGF8 in the anterior and leads these cells to their developmental fate.
Mutation of the Lunatic fringe gene can cause severe spondylocostal dysostosis, which involves vertebral segmentation defects and rib abnormalities. Spondylocostal dysostosis (Jarcho-Levin syndrome) is a heritable axial skeleton growth disorder. It is characterized by widespread and sometimes severe malformations of the vertebral column and ribs, shortened thorax, and moderate to severe scoliosis and kyphosis. Individuals with Jarcho-Levin syndrome typically appear to have a short trunk and neck, with arms appearing relatively long in comparison, and a slightly protuberant abdomen. Severely affected individuals may have life-threatening pulmonary complications due to deformities of the thorax. The syndrome was first described by Saul Jarcho and Paul Levin at Johns Hopkins University in 1938.
Spondylocostal dysostosis type-3 (SCDO3) is an autosomal recessive disorder characterized by severe vertebral anomalies extending from the cervical to the sacral spine.
There is evidence that autosomal recessive spondylocostal dysostosis type-3 (SCDO3) is caused by homozygous or compound heterozygous mutation in the LFNG gene on cytogenetic location 7p22.3 and genomic coordinates 7:2,512,529-2,529,177. The screenshot of the LFNG gene 16,649 bp (base pairs) of DNA sequence is shown BELOW. Nine (9) other genes besides LGNG in the 7p22.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 7:2,251,770 | SNX8 | Sorting nexin 8 |
| 7:2,354,086 | EIF3B | Eukaryotic translation initiation factor 3, subunit B |
| 7:2,403,448 | CHST12 | Carbohydrate sulfotransferase 12 |
| 7:2,474,728 | GRIFIN | Galectin-related interfiber protein |
| 7:2,512,529 | LFNG | LFNG O-fucosylpeptide 3-beta-N-acetylglucosaminyltransferase |
| 7:2,537,810 | BRAT1 | BRCA1-associated ATM activator 1 |
| 7:2,558,979 | IQCE | IQ domain-containing protein E |
| 7:2,631,986 | TTYH3 | Tweety family member 3 |
| 7:2,679,522 | AMZ1 | Archaelysin family metallopeptidase 1 |
| 7:2,728,105 | GNA12 | Guanine nucleotide-binding protein, alpha-12 |
