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“Hereditary Mixed Polyposis Syndrome”, Victor McKusick, Mendelian Inheritance in Man, 1966. (HMPS1)

 


Here I present: Hereditary Mixed Polyposis Syndrome”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (HMPS1)

INTRODUCTION.

The hereditary mixed polyposis syndrome (HMPS1) is characterized by atypical juvenile polyps, colonic adenomas, and colorectal carcinomas.


There is evidence that hereditary mixed polyposis syndrome (HMPS1) can be caused by heterozygous duplication on chromosome 15q13-q14 that causes increased and ectopic expression of the germiin (GREM1) gene on genomic coordinates 15:27,800,001-39,800,000. The screenshot of the HMPS1 gene 12,000,000 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides HMPS1 in the 15q13-q14 cytogenetic location are listed BENEATH.

 

Coordinate  Symbol  Genomic Name
15:26,971,181  GABRG3 Gamma-aminobutyric acid (GABA) A receptor, gamma-3
15:27,719,008  OCA2 oculocutaneous albinism II
15:27,800,001  B2MR Beta-2-microglobulin regulator
15:27,800,001  CILD4 Ciliary dyskinesia, primary, 4
15:27,800,001  HMPS1 Polyposis syndrome, hereditary mixed 1
15:27,800,001  SCZD13 Schizophrenia 13
15:27,800,001  SRTD1 Short-rib thoracic dysplasia 1 with or without polydactyly
15:28,111,040  HERC2 HECT domain and RCC1-like domain 2
15:28,885,974  APBA2 Amyloid beta A4 precursor protein-binding, family A, member 2
15:29,117,712  ENTREP2 Endosomal transmembrane epsin interactor 2

 

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