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Page 1
Double Mosaicism in Xia-Gibbs Syndrome.
Hu J, Dawood M, Mehta HH, Pasham D, Kaur M, Kalra D, Walker K, Gingras MC, Lupski JR, Sabo A, Pehlivan D, Gibbs RA. Hu J, et al. Am J Med Genet A. 2026 Feb 25. doi: 10.1002/ajmg.a.70086. Online ahead of print. Am J Med Genet A. 2026. PMID: 41738116
Xia-Gibbs Syndrome (XGS; MIM: 615829) is a rare neurodevelopment disorder (NDD) caused by de novo pathogenic variants in the single coding exon of the AT-Hook DNA-Binding Motif-Containing 1 (AHDC1) gene. In this study, we investigate a rare case of double mosaicism in a 10 …
Xia-Gibbs Syndrome (XGS; MIM: 615829) is a rare neurodevelopment disorder (NDD) caused by de novo pathogenic variants in the single coding e …
Clinical and molecular profiles of patients with Xia-Gibbs syndrome: a cohort in Japan.
Shirai H, Oitani Y, Nishi E, Haraguchi K, Nakamura T, Ichinose F, Sanefuji M, Hattori A, Yanagi K, Shimojima Yamamoto K, Okamoto N, Matsuo M, Saitoh S, Yoshiura KI, Kaname T, Yamamoto T. Shirai H, et al. Brain Dev. 2026 Feb 6;48(2):104509. doi: 10.1016/j.braindev.2026.104509. Online ahead of print. Brain Dev. 2026. PMID: 41653504 Review.
BACKGROUND: Xia-Gibbs syndrome (XGS) is a rare neurodevelopmental disorder caused by pathogenic variants in the AT-hook DNA binding motif containing 1 (AHDC1) gene. More than 100 patients with XGS have been reported. In this study, we describe the findings from a Japanese …
BACKGROUND: Xia-Gibbs syndrome (XGS) is a rare neurodevelopmental disorder caused by pathogenic variants in the AT-hook DNA binding motif co …
Molecular features of AHDC1: insights into an overlooked gene with broad functional potential.
Bochicchio S, Mazzetti A, Graziani L, Tartaglia GG, Gustincich S, Sanges R. Bochicchio S, et al. Hum Genet. 2025 Oct;144(9-10):901-916. doi: 10.1007/s00439-025-02765-7. Epub 2025 Aug 22. Hum Genet. 2025. PMID: 40844525 Free PMC article. Review.
However, interest in AHDC1 has grown significantly recently as researchers have strived to uncover the mechanisms underlying XIGIS-associated phenotypes. Recognizing these advances, the Pharos database reclassified AHDC1 as a Tbio gene in 2023, acknowledging its ris …
However, interest in AHDC1 has grown significantly recently as researchers have strived to uncover the mechanisms underlying XIGIS-as …
Xia-Gibbs syndrome in an 18-Year-Old Iranian girl: a case study of clinical features and genetic mutation.
Farahani M, Jalali A, Ebrahimi M, Kazemi H. Farahani M, et al. Mol Biol Rep. 2025 Aug 18;52(1):834. doi: 10.1007/s11033-025-10933-1. Mol Biol Rep. 2025. PMID: 40824318
Genetic analysis identified a de novo nonsense mutation in the AHDC1 gene (c.2062 C > T, p.(Arg688Ter)), resulting in a truncated and non-functional protein, which correlates with the patient's symptoms. ...
Genetic analysis identified a de novo nonsense mutation in the AHDC1 gene (c.2062 C > T, p.(Arg688Ter)), resulting in a truncated …
Clinical and Molecular Characterization of Xia-Gibbs Syndrome: Expanding the Phenotypic Spectrum in a Brazilian Cohort.
Sennes MGS, Carvalho LML, Castro MAA, Toccoli GM, Farias SO, Fialho DMC, Bertollo EMG, Pavarino EC, de Athayde LS, Buck CB, Toralles MBP, Melaragno MI, Riegel-Giugliani M, Spolador GM, Otto PA, Piai CB, Kok F, Cechella CS, Rosenberg C, Llerena JC, Bertola DR, Raskin S, Kim CA, Krepischi ACV. Sennes MGS, et al. Clin Genet. 2025 Dec;108(6):654-663. doi: 10.1111/cge.14777. Epub 2025 Jun 11. Clin Genet. 2025. PMID: 40501103 Free PMC article.
Xia-Gibbs syndrome (XGS) is a rare intellectual disability (ID) syndrome caused by de novo AHDC1 pathogenic variants. We characterized clinical and molecular features of 16 Brazilian patients with XGS. ...Statistical analyses were conducted to evaluate genotype-phenotype a …
Xia-Gibbs syndrome (XGS) is a rare intellectual disability (ID) syndrome caused by de novo AHDC1 pathogenic variants. We characterize …
The Process of Diagnosing Xia Gibbs Syndrome in A Male Child with Autism Spectrum Disorder and AHDC1 Gene Mutation: Case Report.
Kardaş B, Topçu B, Şahin AB, Şişmanlar ŞG. Kardaş B, et al. Noro Psikiyatr Ars. 2025 Feb 6;62(1):84-86. doi: 10.29399/npa.28555. eCollection 2025. Noro Psikiyatr Ars. 2025. PMID: 40046197 Free PMC article.
Xia Gibbs Syndrome (XGS) is a rare disorder with different phenotypic and behavioral manifestations and clinical reflections known to develop as a result of de novo mutations in the AT-Hook DNA binding motif (AHDC1). Our patient was first evaluated in the pediatric psychia …
Xia Gibbs Syndrome (XGS) is a rare disorder with different phenotypic and behavioral manifestations and clinical reflections known to develo …
"Chance and Necessity" on the Molecular Evolution of REV3 (a Catalytic Subunit of DNA Polymerase ζ)-The Dual Roles of Translesion and Neuronal Extension.
Kajiwara K, Yamada K. Kajiwara K, et al. Genes Cells. 2025 Jan;30(1):e13189. doi: 10.1111/gtc.13189. Genes Cells. 2025. PMID: 39822052 Free article.
Therefore, insertion events of foreign sequences are all products of "necessity". tBLASTn analysis of the Callorhinchus milii (elephant shark) genome with the C. milii REV3 sequence identified three neural factors (NEXMIF, NEXMIF-like and AHDC1) in distinct positions of th …
Therefore, insertion events of foreign sequences are all products of "necessity". tBLASTn analysis of the Callorhinchus milii (elephant shar …
Phenotypic subtypes of Xia-Gibbs syndrome: a latent class analysis.
Jiang N, Zhang L, Zheng Z, Du H, Chen S, Pan H. Jiang N, et al. Eur J Hum Genet. 2025 Dec;33(12):1558-1566. doi: 10.1038/s41431-024-01754-0. Epub 2024 Dec 9. Eur J Hum Genet. 2025. PMID: 39648204 Free PMC article. Review.
By searching PubMed, Embase, China National Knowledge Infrastructure and Wanfang databases from inception to February 2024, we enrolled 97 cases with nonsense, frameshift or missense variants in the AHDC1 gene. LCA was based on the following 6 phenotypes with moderate occu …
By searching PubMed, Embase, China National Knowledge Infrastructure and Wanfang databases from inception to February 2024, we enrolled 97 c …
De novo AHDC1 Deletions Identified by Genome Sequencing in Two Individuals with Xia-Gibbs Syndrome.
Bertrand M, Shah G, Pedersen BS, Schulz A, Weise A, Liehr T, Huppke P, DiTroia S, Quinlan AR, Haack TB, Husain RA. Bertrand M, et al. Mol Syndromol. 2024 Oct;15(5):389-397. doi: 10.1159/000538918. Epub 2024 May 20. Mol Syndromol. 2024. PMID: 39359946 Free PMC article.
In the first patient, a de novo interstitial deletion in 1p36.11p35.3 encompassing the entire coding region of AHDC1 was initially suspected by trio exome sequencing and subsequently confirmed by shallow genome sequencing. In the second patient, a de novo deletion comprisi …
In the first patient, a de novo interstitial deletion in 1p36.11p35.3 encompassing the entire coding region of AHDC1 was initially su …
58 results