Gene Symbol: AHDC1
Description: AT-hook DNA binding motif containing 1
Alias: MRD25, AT-hook DNA-binding motif-containing protein 1
Gumus E. Extending the phenotype of Xia-Gibbs syndrome in a two-year-old patient with craniosynostosis with a novel de novo AHDC1 missense mutation. Eur J Med Genet. 2019;: pubmed publisher
Xia-Gibbs syndrome (Mental retardation, autosomal dominant 25; MRD25) [MIM 615829] is a rare autosomal dominant disease characterized by mental retardation, developmental delay, speech delay, structural brain anomalies, hypotonicity, ..
Wang Q, Huang X, Liu Y, Peng Q, Zhang Y, Liu J, et al
. Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder. Eur J Med Genet. 2019;: pubmed publisher
..At present, Xia-Gibbs syndrome has been reported to be mainly caused by truncating mutations in AHDC1 gene located on chromosome 1p36.11...
Murdock D, Jiang Y, Wangler M, Khayat M, Sabo A, Juusola J, et al
. Xia-Gibbs Syndrome in adulthood: a case report with insight into the natural history of the condition. Cold Spring Harb Mol Case Stud. 2019;: pubmed publisher
..Subsequent whole exome sequencing revealed a heterozygous, truncating variant in the AHDC1 gene, consistent with a diagnosis of Xia-Gibbs Syndrome (XGS)...
Quintero Rivera F, Xi Q, Keppler Noreuil K, Lee J, Higgins A, Anchan R, et al
. MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus. Hum Mol Genet. 2015;24:2375-89 pubmed publisher
..The 1p breakpoint disrupts the 5' UTR of AHDC1, which encodes AT-hook DNA-binding motif containing-1 protein, and AHDC1-truncating mutations have recently been ..
Bosch D, Boonstra F, de Leeuw N, Pfundt R, Nillesen W, de Ligt J, et al
. Novel genetic causes for cerebral visual impairment. Eur J Hum Genet. 2016;24:660-5 pubmed publisher
..After classification, variants in four genes known to be associated with CVI (AHDC1, NGLY1, NR2F1, PGAP1) in 5 patients (20%) were identified, establishing a conclusive genetic diagnosis for CVI...
Yang H, Douglas G, Monaghan K, Retterer K, Cho M, Escobar L, et al
. 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;1:a000562 pubmed publisher
..who were all heterozygous for de novo truncating variants in the AT-hook DNA-binding motif-containing protein 1 (AHDC1)...
Xia F, Bainbridge M, Tan T, Wangler M, Scheuerle A, Zackai E, et al
. De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. Am J Hum Genet. 2014;94:784-9 pubmed publisher
..Three of the four also had sleep apnea. Each was a simplex case without a remarkable family history. Using WES, we identified AHDC1 de novo truncating mutations that most likely cause this genetic syndrome.
Popp B, Ekici A, Thiel C, Hoyer J, Wiesener A, Kraus C, et al
. Exome Pool-Seq in neurodevelopmental disorders. Eur J Hum Genet. 2017;25:1364-1376 pubmed publisher
..five of these were identified in 923 established NDD genes (based on SysID database, status November 2016) (ACTB, AHDC1, ANKRD11, ATP6V1B2, ATRX, CASK, CHD8, GNAS, IFIH1, KCNQ2, KMT2A, KRAS, MAOA, MED12, MED13L, RIT1, SETD5, SIN3A, ..
GarcÃa Acero M, Acosta J. Whole-Exome Sequencing Identifies a de novo AHDC1 Mutation in a Colombian Patient with Xia-Gibbs Syndrome. Mol Syndromol. 2017;8:308-312 pubmed publisher
..Using whole-exome sequencing, we identified a de novo AHDC1 frameshift mutation c.2030_2030delG (p.G677Afs*52) in a Colombian patient, which was absent in both parents...