{"id":6005,"date":"2019-09-23T11:31:19","date_gmt":"2019-09-23T15:31:19","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/?page_id=6005"},"modified":"2020-05-05T11:41:25","modified_gmt":"2020-05-05T15:41:25","slug":"6005-2","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/champ1-2\/6005-2\/","title":{"rendered":""},"content":{"rendered":"

De novo truncating mutations in the kinetochore-microtubules attachment gene\u00a0CHAMP1<\/em> cause syndromic intellectual disability<\/strong><\/h2>\n

Original research article by B. Isidor et al.<\/em> (2016).<\/p>\n

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

Changes in the\u00a0CHAMP1<\/em>\u00a0gene may be associated with a rare form of intellectual disability with speech impairment. The authors of this study found six children with changes in the\u00a0CHAMP1<\/em>\u00a0gene. In all cases, the changes were de novo, or not found in either parent. Changes in the\u00a0CHAMP1\u00a0<\/em>gene\u2019s structure and function alter its ability to work with other crucial genes, impairing critical developmental functions. While the genetic changes in CHAMP1<\/em> were different in each of the six children, all six have similar physical features and levels of developmental delay and\/or intellectual disability. The researchers\u2019 findings are summarized in the table below.<\/p>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n
Feature<\/strong><\/td>\nNumber of Children Affected (out of 6)<\/strong><\/td>\n<\/tr>\n
Developmental Delay\/Intellectual Disability<\/td>\n6\/6<\/td>\n<\/tr>\n
Failure to Thrive<\/td>\n2\/6<\/td>\n<\/tr>\n
Delay in Walking<\/td>\n6\/6<\/td>\n<\/tr>\n
Speech Delay<\/td>\n6\/6<\/td>\n<\/tr>\n
Very Limited or No Speech Abilities<\/td>\n6\/6<\/td>\n<\/tr>\n
Problems\/Issues with Behavior<\/td>\n3\/6<\/td>\n<\/tr>\n
Seizures<\/td>\n1\/6<\/td>\n<\/tr>\n
Skeletal Abnormalities<\/td>\n5\/6<\/td>\n<\/tr>\n
Facial Abnormalities<\/td>\n5\/6<\/td>\n<\/tr>\n
Eye Abnormalities<\/td>\n5\/6<\/td>\n<\/tr>\n
Difficulty in Feeding\/Eating<\/td>\n3\/6<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n","protected":false},"excerpt":{"rendered":"

De novo truncating mutations in the kinetochore-microtubules attachment gene\u00a0CHAMP1 cause syndromic intellectual disability Original research article by B. Isidor et al. (2016). Read the abstract here. Changes in the\u00a0CHAMP1\u00a0gene may be associated with a rare form of intellectual disability with speech impairment. The authors of this study found six children with changes in the\u00a0CHAMP1\u00a0gene. In […]<\/p>\n","protected":false},"author":13,"featured_media":0,"parent":418,"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\/6005"}],"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=6005"}],"version-history":[{"count":6,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6005\/revisions"}],"predecessor-version":[{"id":7847,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/6005\/revisions\/7847"}],"up":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/418"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media?parent=6005"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}