Here I present: “Currarino Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 庫拉裡諾綜合症。icd10=Q87.8
INTRODUCTION.
Currarino syndrome is an inherited congenital disorder with triad either: (1) the sacrum is not formed properly; or (2) there is a mass in the presacral space in front of the sacrum; and, (3) malformation of the anus and rectum.
Currarino syndrome is an autosomal dominant hereditary sacral dysgenesis that classically consists of the triad of: (1) sacral malformation, (2) presacral mass, and (3) anorectal malformations.
There is evidence that Currarino syndrome is caused by mutation in the motor neuron and pancreas homeobox-1 (MNX1) gene on 7q36.3 cytogenetic location and genomic coordinates 7:157,004,854-157,010,663. The screenshot of the MNX1 gene 5,810 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides MNX1 in the cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 7:156,640,204 | RNF32 | RING finger protein 32 |
| 7:156,669,012 | LMBR1 | Limb development membrane protein 1 |
| 7:156,790,708 | ZRS | ZPA regulatory sequence |
| 7:156,949,712 | NOM1 | Nucleolar protein with MIF4G domain 1 |
| 7:157,004,854 | MNX1 | Motor neuron and pancreas homeobox 1 |
| 7:157,138,926 | UBE3C | Ubiquitin protein ligase E3C |
| 7:157,337,004 | DNAJB6 | DNAJ/HSP40 homolog, subfamily B, member 6 |
| 7:157,539,056 | PTPRN2 | Protein-tyrosine phosphatase, receptor-type, N, polypeptide 2 |
| 7:158,631,169 | NCAPG2 | Non-SMC condensin II complex subunit G2 |
| 7:158,730,997 | ESYT2 | Extended synaptotagmin-like protein 2 |
