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“Alstrom Syndrome”, Victor McKusick, Mendelian Inheritance in Man, 1966. (ALMS) 阿尔斯特罗姆综合症。

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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

 

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