Here I present: “Klippel-Feil Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (KFS1).
INTRODUCTION.
Klippel–Feil syndrome (KFS) is a congenital condition characterized by the abnormal fusion of any two (2) of the seven (7) bones in the neck (cervical vertebrae). It can result in a limited ability to move the neck and shortness of the neck, resulting in the appearance of a low hairline. Mutations of the GDF6, GDF3 and MEOX1 genes are associated with Klippel-Feil syndrome (KFS) on chromosomes #8, #12 and #17 respectively.
There is evidence because Klippel-Feil syndrome type-1 (KFS1) is caused by heterozygous mutation in the growth/differentiation factor-6 (GDF6) gene on cytogenetic location 8q22.1 and genomic coordinates 8:96,142,333-96,160,806. The screenshot of the GDF6 gene 18,474 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides GDF6 in the 8q22.1 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomicu you Name |
| 8:94,895,799 | NDUFAF6 | NADH-ubiquinone oxidoreductase assembly factor 6 |
| 8:94,925,972 | TP53DINP1 | Tumor protein p53 inducible nuclear protein 1 |
| 8:95,133,785 | PLEKHF2 | Pleckstrin protein, family F, member 2 |
| 8:95,244,913 | CFAP418 | Cilia- and flagella-associated protein 418 |
| 8:96,142,333 | GDF6 | Growth/differentiation factor 6 |
| 8:96,222,947 | UQCRB | Ubiquinol-cytochrome c reductase binding protein |
| 8:96,239,398 | MTERF3 | Transcription termination factor 3, mitochondrial |
| 8:96,261,902 | PTDSS1 | Phosphatidylserine synthase 1 |
| 8:96,493,813 | SDC2 | Syndecan 2 |
| 8:96,645,242 | CPQ | Carboxypeptidase Q |
