Here I present: “Sindh Dwarfism”, Victor McKusick, Mendelian Inheritance in Man’, 1966. 信德矮人主義。icd10=E23.0
INTRODUCTION.
Sindh Dwarfism formally referred to as “isolated growth hormone deficiency type-IV” is an autosomal recessive disorder characterized by early and severe growth failure, a blunted growth hormone response to different provocation tests and low insulin-like growth factor-I and IGF-binding protein-3 concentrations, and a good response to growth hormone treatment.
There is evidence “isolated growth hormone deficiency type IV” is caused by homozygous or compound heterozygous mutation in the growth hormone releasing hormone receptor (GHRHR) gene on cytogenetic location 7p14.3 and genomic coordinates 7:30,963,953-30,979,528. The screenshot of the GHRHR gene 15,576 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides GHRHR in the 7p14.3 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 7:30,594,735 | GARS1 | Glycyl-tRNA synthetase 1 |
| 7:30,651,942 | CRHR2 | Corticotropin releasing hormone receptor-2 |
| 7:30,752,135 | INMT | Indolethylamine N-methyltransferase |
| 7:30,911,853 | AQP1 | Aquaporin-1 |
| 7:30,963,953 | GHRHR | Growth hormone releasing hormone receptor |
| 7:31,052,308 | ADCYAP1R1 | ADCYAP receptor, type I |
| 7:31,337,465 | NEUROD6 | Neurogenic differentiation 6 |
| 7:31,616,777 | PDE1C | Phosphodiesterase 1C |
| 7:31,687,215 | GSBS | G-substrate |
| 7:32,485,338 | LSM5 | LSM5 protein |
