Abstract
Arthrogryposis multiplex congenita (AMC) describes a group of conditions characterized by the presence of non-progressive congenital contractures in multiple body areas. Scoliosis, defined as a coronal plane spine curvature of ≥10 degrees as measured radiographically, has been reported to occur in approximately 20% of children with AMC. To identify genes that are associated with both scoliosis as a clinical outcome and AMC, we first queried the DECIPHER database for copy number variations (CNVs). Upon query, we identified only two patients with both AMC and scoliosis (AMC-SC). The first patient contained CNVs in three genes (FBN2, MGF10, and PITX1), while the second case had a CNV in ZC4H2. Looking into small variants, using a combination of Human Phenotype Ontogeny and literature searching, 908 genes linked with scoliosis and 444 genes linked with AMC were identified. From these lists, 227 genes were associated with AMC-SC. Ingenuity Pathway Analysis (IPA) was performed on the final gene list to gain insight into the functional interactions of genes and various categories. To summarize, this group of genes encompasses a diverse group of cellular functions including transcription regulation, transmembrane receptor, growth factor, and ion channels. These results provide a focal point for further research using genomics and animal models to facilitate the identification of prognostic factors and therapeutic targets for AMC.
Highlights
Licensee MDPI, Basel, Switzerland.Arthrogryposis multiplex congenita (AMC or interchangeably arthrogryposis) describes a group of conditions characterized by the presence of non-progressive congenital contractures in multiple body areas [1]
Combining the initial literature search results with the Human Phenotype Ontology (HPO) identified genes for AMC-SC independently yielded a total of 444 genes associated with AMC and 908 genes associated with scoliosis
When comparing these two sets of genes, 227 genes were found in common (Figure 2)
Summary
Licensee MDPI, Basel, Switzerland.Arthrogryposis multiplex congenita (AMC or interchangeably arthrogryposis) describes a group of conditions characterized by the presence of non-progressive congenital contractures in multiple body areas [1]. There are more than 400 underlying conditions identified that can lead to fetal akinesia and subsequently to a baby born with AMC, and most of these conditions have known genetic causes [2,3]. The first category consists of only one diagnosis, Amyoplasia, which represents approximately one-third of cases of arthrogryposis. This “classic arthrogryposis” is a distinct clinical entity presenting with hypoplasia or atrophy of specific muscle groups, and multiple joint contractures. The second category consists of the distal arthrogryposes (DAs), defined by the presence of congenital contractures of primarily the distal joints, primarily wrist and hand contractures and foot deformities (clubfoot or congenital vertical talus), and to a lesser extent elbows, knees, shoulders, and hips. The third category, Bamshad’s syndromic category, is used to denote cases of arthrogryposis which may be associated with bone or central nervous system involvement and other birth defects or malformations
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