Gene - AHDC1


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Research Article Summaries: 

Below, we've summarized several research articles that include information about AHDC1. We hope you find this information helpful! As we learn more from children who have these gene changes, we expect this list of resources and information to grow.

  • Yang et al. (2015)De novo truncating mutations in the ADHC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay

    Using whole-exome sequencing of over 2,100 individuals, researchers identified seven individuals with genetic changes ("mutations") of the ADHC1 gene that were not found in either parent (called a “de novo” mutation). Mutations in the ADHC1 gene are believed to disrupt brain development, which is why intellectual disability can be seen in individuals with these mutations. Ranging from 2 to 16 years old, the individuals identified by the researchers all had significant intellectual disability or developmental delay with limited or no verbal skills (among other clinical features often observed in patients with mutations in genes disrupting brain function). These features are summarized below.


  • Xia et al. (2014)De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea

    Using whole-exome sequencing, the authors identified four children, ranging from 18 months to 11 years of age, with genetic changes (also called mutations) in the AHDC1 gene. It is important to note the wide age range of the children in this study; because children achieve various developmental milestones at different ages, making broad comparisons across age groups can be difficult.

    All four children had some level of intellectual disability and/or developmental delay, low muscle tone (hypotonia), failure to thrive, and some mild difference in facial features. Three of the four children had a history of stopping breathing during sleep (sleep apnea), and all four children had some degree of speech impairment. Two children (ages 18 months and 11 years) were assessed as being non-verbal; one child (age 4) was assessed as speaking two words, and one child (age 8) was assessed as verbal, speaking his first words after age 1 and attending persistent speech therapy.

    This group of clinical features is not currently associated with a specific condition, and due to the rare nature of AHDC1 mutations, researchers believe that these gene changes may be an underlying cause of the features observed in these individuals. With further research and more data from families, a stronger conclusion can be made regarding how mutations in AHDC1 are associated with developmental delay and sleep problems.

You can also visit SFARI's website to see information written for researchers about this gene. SFARIgene: AHDC1

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