Review of X‐linked syndromes with arthrogryposis or early contractures—aid to diagnosis and pathway identification

Abstract

The following is a review of 50 X-linked syndromes and conditions associated with either arthrogryposis or other types of early contractures. These entities are categorized as those with known responsible gene mutations, those which are definitely X-linked, but the responsible gene has not been identified, and those suspected from family history to be X-linked. Several important ontology pathways for known disease genes have been identified and are discussed in relevance to clinical characteristics. Tables are included which help to identify distinguishing clinical features of each of the conditions.

Molecular etiology of arthrogryposis in multiple families of mostly Turkish origin

“…A list of known genes (Supplemental Table 1) was constructed from multiple online database resources (http:// www.omim.org/, http://www.mnglabs.com/tests/, http://www. ncbi.nlm.nih.gov/pubmed) or abstracted from recently published articles (2,3,(26)(27)(28)(29)(30)(31)(32)(33)(34)(35). Deleterious variants in the known arthrogryposis-associated genes were identified in 17 of 48 (35.4%) unrelated families (Table 1).…”

MET mutation causes muscular dysplasia and arthrogryposis

“…Structural and functional disorders of skeletal muscles are the most common reason for arthrogryposis (Toydemir et al, 2006). Variants in more than 220 genes have been found to be associated with arthrogryposis (Narkis et al, 2007;Drury et al, 2014;Hunter et al, 2015;Bayram et al, 2016). Variants in more than 220 genes have been found to be associated with arthrogryposis (Narkis et al, 2007;Drury et al, 2014;Hunter et al, 2015;Bayram et al, 2016).…”

Arthrogryposis as a Syndrome: Gene Ontology Analysis

“…Over 400 different specific conditions with arthrogryposis have been recognized and over 320 genes implicated [Michalk et al, 2008;Hall, 2014;Hunter et al, 2015;Bayram et al, 2016]. There is a need to annotate and functionally group these genes into known pathways and biological processes.…”

“…Individuals with this form usually do surprisingly well and have normal to high intelligence, but it appears to be totally sporadic (although increased in one of monozygotic twins). Most other recognizable types of arthrogryposis have a genetic basis (i.e., single gene mutation) [Michalk et al, 2008;Hall, 2014;Hunter et al, 2015;Bayram et al, 2016].…”

“…omim.org/) [Hall, 2012[Hall, , 2014Hunter et al, 2015;Bayram et al, 2016]. Table 1 outlines gene ontology categories and begins to suggest prime candidates for recognizing critical pathways involved in normal fetal movement.…”