Here I present: “Chondrodysplasia Punctata (rhizomelic type-2)”, Victor McKusick, Mendelian Inheritance in Man’, 1966.
INTRODUCTION.
1. Chondrodysplasia punctata is a clinically and genetically diverse group of rare diseases, first described by Erich Conradi (1882–1968), that share the features of stippled epiphyses and skeletal changes. Stippled epiphyses is a pattern of focal bone calcification. The presence of abnormal punctate (speckled, dot-like) calcifications in one or more epiphyses. It is seen in chondrodysplasia punctata.
2. Rhizomelic chondrodysplasia punctata is a rare developmental brain disorder characterized by abnormally short arms and legs (rhizomelia), seizures, recurrent respiratory tract infections and congenital cataracts. Rhizomelic chondrodysplasia punctata cause is a genetic mutation that results in low levels of plasmalogens lipid in cell membranes throughout the body.
3. The condition is acquired in an autosomal recessive manner. This condition is a consequence of GNPAT. Glyceronephosphate O-acyltransferase (GNPAT) is an enzyme (EC# 2.3.1.42) associated with rhizomelic chondrodysplasia punctata type 2. GNPAT is located on cytogenetic location 1q42.2 and genomic coordinates 1:231,241,212-231,277,973 . The GNPAT gene screenshot is shown BELOW of 36,762 bp (base pairs) of DNA sequence length.
