{"id":5870,"date":"2019-09-18T13:09:29","date_gmt":"2019-09-18T17:09:29","guid":{"rendered":"https:\/\/www.simonssearchlight.org\/?page_id=5870"},"modified":"2020-06-03T16:23:26","modified_gmt":"2020-06-03T20:23:26","slug":"de-novo-truncating-mutations-in-the-adhc1-gene","status":"publish","type":"page","link":"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/ahdc1-old\/de-novo-truncating-mutations-in-the-adhc1-gene\/","title":{"rendered":""},"content":{"rendered":"

De novo truncating mutations in the AHDC1<\/em> gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay<\/strong><\/h2>\n

Original research report by H. Yang et al.<\/em> (2015).<\/p>\n

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

Researchers tested 2,157 people using whole-exome sequencing to identify 7 people with changes in the AHDC1<\/em> gene. The changes were \u201cde novo,\u201d meaning they were not found in either parent. Changes in the AHDC1<\/em> gene are believed to disrupt brain development and to be associated with intellectual disability. The people the researchers identified ranged in age from 2 to 16 years. All of them had significant intellectual disability or developmental delay and limited or no verbal skills, among other clinical features. These features are summarized below.<\/p>\n\n\n\n\n\n\n\n\n\n\n\n\n\n\n
Clinical Features in Individuals with an AHDC1 gene change<\/strong><\/td>\nNumber of Individuals with Feature<\/strong><\/td>\n<\/tr>\n
Developmental delay\/Intellectual disability<\/strong><\/td>\n7\/7<\/td>\n<\/tr>\n
Limited or no verbal skills<\/strong><\/td>\n7\/7<\/td>\n<\/tr>\n
Hypotonia (Low muscle tone)<\/strong><\/td>\n6\/7<\/td>\n<\/tr>\n
Differences in facial features<\/strong><\/td>\n6\/7<\/td>\n<\/tr>\n
Current growth problems with or without a history of growth problems<\/strong><\/td>\n5\/7<\/td>\n<\/tr>\n
Behavioral issues<\/strong><\/td>\n5\/7<\/td>\n<\/tr>\n
Structural abnormalities of the eye(s)<\/strong><\/td>\n5\/7<\/td>\n<\/tr>\n
Abnormal brain imaging<\/strong><\/td>\n5\/7<\/td>\n<\/tr>\n
Sleeping issues (i.e. sleep apnea, restlessness, trouble falling and\/or staying asleep, etc.)<\/strong><\/td>\n4\/7<\/td>\n<\/tr>\n
Autism Spectrum Disorder (ASD) Diagnosis<\/strong><\/td>\n2\/7<\/td>\n<\/tr>\n
Seizures\/Epileptic activity<\/strong><\/td>\n2\/7<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n","protected":false},"excerpt":{"rendered":"

De novo truncating mutations in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay Original research report by H. Yang et al. (2015). Read the report here. Researchers tested 2,157 people using whole-exome sequencing to identify 7 people with changes in the AHDC1 gene. The changes […]<\/p>\n","protected":false},"author":6,"featured_media":0,"parent":1656,"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\/5870"}],"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\/6"}],"replies":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/comments?post=5870"}],"version-history":[{"count":9,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/5870\/revisions"}],"predecessor-version":[{"id":7999,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/5870\/revisions\/7999"}],"up":[{"embeddable":true,"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/pages\/1656"}],"wp:attachment":[{"href":"https:\/\/www.simonssearchlight.org\/wp-json\/wp\/v2\/media?parent=5870"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}