{"id":6064,"date":"2019-09-24T10:58:42","date_gmt":"2019-09-24T14:58:42","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/?page_id=6064"},"modified":"2020-05-15T17:29:14","modified_gmt":"2020-05-15T21:29:14","slug":"6064-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/ddx3x-3-2\/6064-2\/","title":{"rendered":""},"content":{"rendered":"

Mutations in\u00a0DDX3X<\/em> are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling<\/strong><\/h2>\n

Original research article by Snijders Blok\u00a0et al<\/em>. (2015).<\/p>\n

Read the abstract here<\/a>.<\/p>\n

This article considers the effect that changes in the\u00a0DDX3X\u00a0gene have on females\u2019 behavioral, developmental, and physical features. Participants were females with unexplained intellectual disability (ID). ID affects 1% to 3% of the human population and is more commonly reported in males than in females. The majority of genetic changes associated with ID occur in males. However, changes in the\u00a0DDX3X\u00a0<\/em>gene are more commonly associated with ID in females. This study identified 38 females with de novo (new)\u00a0DDX3X\u00a0changes and analyzed their characteristics. The following table lists the common characteristics the researchers observed:<\/p>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n
Clinical Features of Females with a DDX3X Gene Change<\/strong><\/td>\n<\/tr>\n
<\/td>\nPercentage (%)<\/td>\nNumber of individuals with condition<\/td>\n<\/tr>\n
Development<\/strong><\/em><\/td>\n<\/tr>\n
Intellectual disability or developmental delay<\/td>\n100<\/td>\n38\/38<\/td>\n<\/tr>\n
Mild or mild-moderate disability<\/td>\n26<\/td>\n10\/38<\/td>\n<\/tr>\n
Moderate or moderate-severe disability<\/td>\n26<\/td>\n10\/38<\/td>\n<\/tr>\n
Severe disability<\/td>\n40<\/td>\n15\/38<\/td>\n<\/tr>\n
Developmental delay<\/td>\n8<\/td>\n3\/38<\/td>\n<\/tr>\n
Growth<\/strong><\/em><\/td>\n<\/tr>\n
Low weight<\/td>\n32<\/td>\n12\/38<\/td>\n<\/tr>\n
Microcephaly<\/td>\n32<\/td>\n12\/38<\/td>\n<\/tr>\n
Neurology<\/strong><\/em><\/td>\n<\/tr>\n
Hypotonia<\/td>\n76<\/td>\n29\/38<\/td>\n<\/tr>\n
Epilepsy<\/td>\n16<\/td>\n6\/38<\/td>\n<\/tr>\n
Movement disorder (including spasticity)<\/td>\n45<\/td>\n17\/38<\/td>\n<\/tr>\n
Behavior problems<\/td>\n53<\/td>\n20\/38<\/td>\n<\/tr>\n
Brain MRI<\/strong><\/em><\/td>\n<\/tr>\n
Corpus callosum hypoplasia<\/td>\n35<\/td>\n13\/37<\/td>\n<\/tr>\n
Cortical malformation<\/td>\n11<\/td>\n4\/37<\/td>\n<\/tr>\n
Ventricular enlargement<\/td>\n35<\/td>\n13\/37<\/td>\n<\/tr>\n
Other<\/strong><\/em><\/td>\n<\/tr>\n
Skin abnormalities<\/td>\n37<\/td>\n14\/38<\/td>\n<\/tr>\n
Hyperlaxity<\/td>\n37<\/td>\n14\/38<\/td>\n<\/tr>\n
Visual problems<\/td>\n34<\/td>\n13\/38<\/td>\n<\/tr>\n
Hearing loss<\/td>\n8<\/td>\n3\/38<\/td>\n<\/tr>\n
Cleft lip or palate<\/td>\n8<\/td>\n3\/38<\/td>\n<\/tr>\n
Precocious puberty<\/td>\n13<\/td>\n5\/38<\/td>\n<\/tr>\n
Scoliosis<\/td>\n11<\/td>\n4\/38<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n

 <\/p>\n","protected":false},"excerpt":{"rendered":"

Mutations in\u00a0DDX3X are a common cause of unexplained intellectual disability with gender-specific effects on Wnt signaling Original research article by Snijders Blok\u00a0et al. (2015). Read the abstract here. This article considers the effect that changes in the\u00a0DDX3X\u00a0gene have on females\u2019 behavioral, developmental, and physical features. Participants were females with unexplained intellectual disability (ID). ID affects […]<\/p>\n","protected":false},"author":13,"featured_media":0,"parent":465,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"","meta":{"_acf_changed":false,"_relevanssi_hide_post":"","_relevanssi_hide_content":"","_relevanssi_pin_for_all":"","_relevanssi_pin_keywords":"","_relevanssi_unpin_keywords":"","_relevanssi_related_keywords":"","_relevanssi_related_include_ids":"","_relevanssi_related_exclude_ids":"","_relevanssi_related_no_append":"","_relevanssi_related_not_related":"","_relevanssi_related_posts":"","_relevanssi_noindex_reason":"","footnotes":""},"acf":[],"_links":{"self":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6064"}],"collection":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages"}],"about":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/types\/page"}],"author":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/users\/13"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/comments?post=6064"}],"version-history":[{"count":3,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6064\/revisions"}],"predecessor-version":[{"id":7875,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6064\/revisions\/7875"}],"up":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/465"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media?parent=6064"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}