“Diastrophic Dysplasia”, Victor McKusick, Mendelian Inheritance in Man, 1966. 發育不良。icd10=Q77.5 (DTD).

Here I present: “Diastrophic Dysplasia”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 發育不良。icd10=Q77.5 (DTD).

INTRODUCTION. 

Diastrophic dysplasia in table the ABOVE  is an autosomal recessive dysplasia which affects cartilage and bone development. (“Diastrophism” is a general word referring to a twisting).  Diastrophic dysplasia is due to mutations in the SLC26A2 gene.o

 

There is evidence diastrophic dysplasia (DTD) is caused by homozygous or compound heterozygous mutation in the solute carrier-26  member-2 (SLC26A2) gene on cytogenetic location 5q32 and genomic coordinates 5:149,960,758-149,987,400 . The screenshot of the SLC26A2 gene 26,643 bp (base pairs) of DNA sequence length is shown BELOW.  Nine (9) other genes besides SLC26A2 in the 5q32 cytogenetic location are listed BENEATH.

 

 

 

Coordinate	Symbol	Genomic Name
5:149,551,625	ARHGEF37	Rho guanine nucleotide exchange factor 37
5:149,730,310	PPARGC1B	Peroxisome proliferator-activated receptor-γ coactivator 1,  β
5:149,732,825	MIR378	Micro RNA 378
5:149,857,953	PDE6A	Phosphodiesterase 6A
5:149,960,758	SLC26A2	Solute carrier 26  member 2 (diastrophic dysplasia)
5:150,000,739	HMGXB3	HMG box-containing protein 3
5:150,021,531	RPS20B	Ribosomal protein S20B
5:150,053,295	CSF1R	Colony-stimulating factor-1 receptor; oncogene FMS
5:150,113,839	PDGFRB	Platelet-derived growth factor receptor, beta polypeptide
5:150,166,778	CDX1	Caudal type homeobox transcription factor 1