Here I present: “Dilated Cardiomyopathy”, Victor McKusick, Mendelian Inheritance in Man’, 1966. (LAMA4) 擴張性心肌病。icd10=I42.0
INTRODUCTION.
Dilated cardiomyopathy (CMD) is characterized by cardiac dilatation and reduced systolic function. CMD is the most frequent form of cardiomyopathy and accounts for more than half of all cardiac transplantations performed in patients between 1 and 10 years of age. A heritable pattern is present in 20 to 30% of cases. Most familial CMD pedigrees show an autosomal dominant pattern of inheritance, usually presenting in the second or third decade of life
Laminin, a multidomain glycoprotein, is the major noncollagenous constituent of basement membranes. It is composed of 3 nonidentical chains: A (LAMA1), B1 (LAMB1), and B2 (LAMC1). The 3 classical laminin chains form a cruciform structure consisting of 3 short arms, each of which is formed from different chains, and a long arm composed of all 3 chains. LAMA4 encodes a variant A chain.
There is evidence that dilated cardiomyopathy type-1JJ is caused by heterozygous mutation in the LAMA4 gene on cytogenetic location 6q21 and genomic coordinates 6:112,107,931-112,254,985. The screenshot the LAMA4 gene 147,055 bp (base pairs) of DNA sequence length is shown BELOW. Nine (9) other genes besides LAMA4 in the 6q21 cytogenetic location are listed BENEATH.
| Coordinate | Symbol | Genomic Name |
| 6:111,555,381 | TRAF3IP2 | TRAF3-interacting protein 2 |
| 6:111,660,332 | FYN | FYN protooncogene, SRC family tyrosine kinase |
| 6:112,052,813 | CCN6 | Cellular communication network factor 6 |
| 6:112,070,663 | TUBE1 | Tubulin, epsilon-1 |
| 6:112,107,931 | LAMA4 | Laminin, alpha-4 |
| 6:113,857,345 | MRACKS | Myristoylated alanine-rich protein kinase C substrate |
| 6:113,933,028 | HDAC2 | Histone deacetylase 2 |
| 6:114,055,596 | HS3ST5 | Heparan sulfate-glucosamine 3-sulfotransferase 5 |
| 6:114,200,001 | FEB5 | Febrile seizures, familial, 5 |
| 6:114,200,001 | FIQTL1 | Fasting insulin level quantitative trait locus 1 |
