Genomic coordinate 7:157,004,854
Here I present: “Currarino Sacral Agenesis”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 骶骨發育。icd10=Q76.49
INTRODUCTION.
Sacral agenesis (Currarino syndrome) is a congenital disorder of fetal development of the lower spine—the caudal partition of the spine—is abnormal.
Currarino syndrome is an autosomal dominant form of hereditary sacral dysgenesis that classically consists of the triad of sacral malformation, presacral mass, and anorectal malformations. However, other features include neonatal-onset bowel obstruction, chronic constipation, recurrent perianal sepsis, renal/urinary tract anomalies, female internal genital anomalies, tethered spinal cord, and anterior meningocele. There is marked inter- and intrafamilial variability, and up to 33% of patients are asymptomatic.
There is evidence that Currarino syndrome is caused by heterozygous mutation in the HLXB9 homeobox gene (MNX1) on cytogenetic location 7q36.3 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 7q36.3 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 |
