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Normal Function
The AHDC1 gene provides instructions for making a protein whose function is not known. The AHDC1 protein is found in the nucleus of cells, and a region of the protein is thought to allow it to attach (bind) to DNA. Based on its location and possible DNA-binding ability, researchers suspect the protein may help control the activity of other genes.
Health Conditions Related to Genetic Changes
Xia-Gibbs syndrome
More than 25 mutations in the AHDC1 gene have been found to cause Xia-Gibbs syndrome, a neurological disorder characterized by intellectual disability and delayed speech development. A variety of other signs and symptoms can also occur in this disorder, such as weak muscle tone, growth impairment, and unusual facial features. Most of the AHDC1 gene mutations involved in Xia-Gibbs syndrome lead to production of abnormally short AHDC1 proteins. The effects of these changes in cells are unclear. The shortened proteins may be quickly broken down or be unable to function. Or, the abnormal proteins may interfere with the function of AHDC1 proteins produced from the normal copy of the gene. Some people with Xia-Gibbs syndrome have a mutation that removes (deletes) the AHDC1 gene (and other nearby genes), although it is unclear if such mutations cause the condition.
Researchers suspect that a reduction in the amount of functional AHDC1 protein prevents normal brain development, leading to intellectual disability, speech problems, and other neurological features of Xia-Gibbs syndrome. Abnormal development of other body systems caused by a shortage of AHDC1 protein may account for additional signs and symptoms of the condition.
More About This Health ConditionOther Names for This Gene
- AT-HOOK DNA-BINDING MOTIF-CONTAINING PROTEIN 1
Additional Information & Resources
Tests Listed in the Genetic Testing Registry
Scientific Articles on PubMed
Catalog of Genes and Diseases from OMIM
References
- Jiang Y, Wangler MF, McGuire AL, Lupski JR, Posey JE, Khayat MM, Murdock DR, Sanchez-Pulido L, Ponting CP, Xia F, Hunter JV, Meng Q, Murugan M, Gibbs RA. The phenotypic spectrum of Xia-Gibbs syndrome. Am J Med Genet A. 2018 Jun;176(6):1315-1326. doi: 10.1002/ajmg.a.38699. Epub 2018 Apr 25. Citation on PubMed or Free article on PubMed Central
- Murdock DR, Jiang Y, Wangler M, Khayat MM, Sabo A, Juusola J, McWalter K, Schatz KS, Gunay-Aygun M, Gibbs RA. Xia-Gibbs syndrome in adulthood: a case report with insight into the natural history of the condition. Cold Spring Harb Mol Case Stud. 2019 Jun 3;5(3):a003608. doi: 10.1101/mcs.a003608. Print 2019 Jun. Citation on PubMed
- Ritter AL, McDougall C, Skraban C, Medne L, Bedoukian EC, Asher SB, Balciuniene J, Campbell CD, Baker SW, Denenberg EH, Mazzola S, Fiordaliso SK, Krantz ID, Kaplan P, Ierardi-Curto L, Santani AB, Zackai EH, Izumi K. Variable Clinical Manifestations of Xia-Gibbs syndrome: Findings of Consecutively Identified Cases at a Single Children's Hospital. Am J Med Genet A. 2018 Sep;176(9):1890-1896. doi: 10.1002/ajmg.a.40380. Epub 2018 Aug 27. Citation on PubMed
- Wang Q, Huang X, Liu Y, Peng Q, Zhang Y, Liu J, Yuan H. Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder. Eur J Med Genet. 2020 Jan;63(1):103611. doi: 10.1016/j.ejmg.2019.01.001. Epub 2019 Jan 4. Citation on PubMed
- Xia F, Bainbridge MN, Tan TY, Wangler MF, Scheuerle AE, Zackai EH, Harr MH, Sutton VR, Nalam RL, Zhu W, Nash M, Ryan MM, Yaplito-Lee J, Hunter JV, Deardorff MA, Penney SJ, Beaudet AL, Plon SE, Boerwinkle EA, Lupski JR, Eng CM, Muzny DM, Yang Y, Gibbs RA. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014 May 1;94(5):784-9. doi: 10.1016/j.ajhg.2014.04.006. Citation on PubMed or Free article on PubMed Central
- Yang H, Douglas G, Monaghan KG, Retterer K, Cho MT, Escobar LF, Tucker ME, Stoler J, Rodan LH, Stein D, Marks W, Enns GM, Platt J, Cox R, Wheeler PG, Crain C, Calhoun A, Tryon R, Richard G, Vitazka P, Chung WK. De novo truncating variants in the AHDC1 gene encoding the AT-hook DNA-binding motif-containing protein 1 are associated with intellectual disability and developmental delay. Cold Spring Harb Mol Case Stud. 2015 Oct;1(1):a000562. doi: 10.1101/mcs.a000562. Citation on PubMed or Free article on PubMed Central
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