
Here I present: “Alstrom Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (ALMS) 阿尔斯特罗姆综合症。
INTRODUCTION.
Alstrom syndrome (ALMS) is an autosomal recessive genetic disorder characterized by childhood obesity and multiple organ dysfunction.
Symptoms include early-onset type 2 diabetes, cone-rod dystrophy resulting in blindness, sensorineural hearing loss and dilated cardiomyopathy. Endocrine disorders typically also occur, such as hypergonadotrophic hypogonadismand hypothyroidism, as well as acanthosis nigricans resulting from hyperinsulinemia. Developmental delay is seen in almost half of people with Alström syndrome.
There is evidence that Alstrom syndrome type-1 (ALMS1) is caused by homozygous or compound heterozygous mutation in the ALMS1 centrosome basal associate protein (ALMS1) gene on cytogenetic location 2p13.1 and genomic coordinates 2:73,385,758-73,609,919 . The screenshot of the ALMS1 gene 224,162 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides ALMS1 in the 2p13.1 are listed BENEATH.
| Coordinate | Symbol | Genomic Name. |
| 2:73,228,006 | PRADC1 | Protease-associated domain-containing protein |
| 2:73,234,308 | CCT7 | Chaperonin containing T-complex polypeptide |
| 2:73,254,690 | FBXO41 | F-box only protein 41 |
| 2:73,290,929 | EGR4 | Early growth response-4 |
| 2:73,385,758 | ALMS1 | ALMS1 centrosome basal associate protein |
| 2:73,640,723 | NAT8 | N-acetyltransferase 8 |
| 2:73,700,509 | NAT8B | N-acetyltransferase 8B |
| 2:73,729,873 | TPRKB | TP53RK-binding protein |
| 2:73,762,213 | DUSP11 | Dual specificity phosphatase-11 |
| 2:73,828,961 | STAM | STAM binding protein |

