Here I present: “Muenke-Craniosynostosis Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 穆恩克綜合症。(MNKES).
INTRODUCTION.
Muenke-Craniosynostosis Syndrome (MNKES) is a condition characterized by the premature closure of certain bones of the skull during development, which affects the shape of the head and face. The syndrome was first described by Maximilian Muenke. This condition accounts for an estimated eight (8) percent of all cases of craniosynostosis.
Muenke-Craniosynostosis Syndrome (MNKES) is an autosomal dominant disorder characterized by uni- or bicoronal synostosis, macrocephaly, midfacial hypoplasia, and developmental delay. Other more variable features include thimble-shaped middle phalanges, brachydactyly, carpal/tarsal fusion, and deafness.
There is evidence Muenke-Craniosynostosis syndrome (MNKES) is caused by a specific heterozygous mutation of the fibroblast growth factor receptor-3 gene (FGFR3) on cytogenetic location 4p16.3 and genomic coordinates 4:1,793,293-1,808,867. The screenshot of the FGFR3 gene 15,575 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides FGFR3 in the 4p16.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 4:1,574,062 | FAM53A | Family with sequence similarity 53, member A |
| 4:1,692,731 | SLBP | Stem-loop binding protein |
| 4:1,715,952 | TMEM129 | Transmembrane protein 129 |
| 4:1,721,521 | TACC3 | Transforming, acidic, coiled-coil protein 3 |
| 4:1,793,293 | FGFR3 | Fibroblast growth factor receptor-3 |
| 4:1,811,479 | LETM1 | Leucine zipper/EF-hand transmembrane protein 1 |
| 4:1,871,393 | NSD2 | Nuclear receptor-binding SET domain protein 2 |
| 4:1,982,723 | NELFA | Negative elongation factor complex member A |
| 4:2,036,554 | C4orf48 | chromosome 4 open reading frame 48 |
| 4:2,059,327 | NAT8L | N-acetyltransferase 8-like |
