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Xia-Gibbs Syndrome.
Chander V, Wangler M, Gibbs R, Murdock D. Chander V, et al. 2021 Dec 9. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. 2021 Dec 9. In: Adam MP, Bick S, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2026. PMID: 34902026 Free Books & Documents. Review.
GENETIC COUNSELING: XGS is an autosomal dominant disorder typically caused by a de novo pathogenic truncating variant in AHDC1. The risk to other family members is presumed to be low, but parental testing should be done when possible to confirm that the variant is de novo. …
GENETIC COUNSELING: XGS is an autosomal dominant disorder typically caused by a de novo pathogenic truncating variant in AHDC1. The r …
Ahdc1 is a potent regulator of obesity and energy metabolism.
Li L, Shao S, Wang Y, Du Z, Yu H, Li F, Qin Y. Li L, et al. Am J Physiol Endocrinol Metab. 2023 Nov 1;325(5):E638-E648. doi: 10.1152/ajpendo.00048.2023. Epub 2023 Oct 11. Am J Physiol Endocrinol Metab. 2023. PMID: 37819197 Free article.
AT-hook DNA-binding motif-containing protein 1 (AHDC1) is a causal gene of intellectual disability/developmental delay in humans. The biological role of AHDC1 is unclear. Recently, some clues from AHDC1 mutation carriers hinted that AHDC1 may participa …
AT-hook DNA-binding motif-containing protein 1 (AHDC1) is a causal gene of intellectual disability/developmental delay in humans. The …
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 …
Phenotypic and protein localization heterogeneity associated with AHDC1 pathogenic protein-truncating alleles in Xia-Gibbs syndrome.
Khayat MM, Li H, Chander V, Hu J, Hansen AW, Li S, Traynelis J, Shen H, Weissenberger G, Stossi F, Johnson HL, Lupski JR, Posey JE, Sabo A, Meng Q, Murdock DR, Wangler M, Gibbs RA. Khayat MM, et al. Hum Mutat. 2021 May;42(5):577-591. doi: 10.1002/humu.24190. Epub 2021 Mar 6. Hum Mutat. 2021. PMID: 33644933 Free PMC article.
Xia-Gibbs syndrome (XGS) is a rare Mendelian disease typically caused by de novo stop-gain or frameshift mutations in the AT-hook DNA binding motif containing 1 (AHDC1) gene. Patients usually present in early infancy with hy …
Xia-Gibbs syndrome (XGS) is a rare Mendelian disease typically caused by de novo stop-gain or frameshift mutations in the AT-hook …
Rare Mutations in AHDC1 in Patients with Obstructive Sleep Apnea.
Yang S, Li K, Zhu MM, Yuan XD, Jiao XL, Yang YY, Li J, Li L, Zhang HN, Du YH, Wei YX, Qin YW. Yang S, et al. Biomed Res Int. 2019 Oct 13;2019:5907361. doi: 10.1155/2019/5907361. eCollection 2019. Biomed Res Int. 2019. PMID: 31737670 Free PMC article.
OBJECTIVES: Obstructive sleep apnea (OSA) is a common disorder influenced by genetic and environmental factors. Mutations of AT-hook DNA-binding motif containing 1 (AHDC1) gene have been implicated which could cause rare syn …
OBJECTIVES: Obstructive sleep apnea (OSA) is a common disorder influenced by genetic and environmental factors. Mutations of AT-ho …
Long read sequencing and expression studies of AHDC1 deletions in Xia-Gibbs syndrome reveal a novel genetic regulatory mechanism.
Chander V, Mahmoud M, Hu J, Dardas Z, Grochowski CM, Dawood M, Khayat MM, Li H, Li S, Jhangiani S, Korchina V, Shen H, Weissenberger G, Meng Q, Gingras MC, Muzny DM, Doddapaneni H, Posey JE, Lupski JR, Sabo A, Murdock DR, Sedlazeck FJ, Gibbs RA. Chander V, et al. Hum Mutat. 2022 Dec;43(12):2033-2053. doi: 10.1002/humu.24461. Epub 2022 Sep 24. Hum Mutat. 2022. PMID: 36054313 Free PMC article.
Individuals with XGS typically harbor de novo protein-truncating mutations in the AT-Hook DNA binding motif containing 1 (AHDC1) gene, although some missense mutations can also cause XGS. ...We analyzed 19 individuals with l …
Individuals with XGS typically harbor de novo protein-truncating mutations in the AT-Hook DNA binding motif …
Microdeletion and microduplication of 1p36.11p35.3 involving AHDC1 contribute to neurodevelopmental disorder.
Wang Q, Huang X, Liu Y, Peng Q, Zhang Y, Liu J, Yuan H. Wang Q, et al. Eur J Med Genet. 2020 Jan;63(1):103611. doi: 10.1016/j.ejmg.2019.01.001. Epub 2019 Jan 4. Eur J Med Genet. 2020. PMID: 30615951
At present, Xia-Gibbs syndrome has been reported to be mainly caused by truncating mutations in AHDC1 gene located on chromosome 1p36.11. However, the evidence supporting AHDC1 deletion as a cause of this syndrome is still limited. ...Therefore, we provide further s …
At present, Xia-Gibbs syndrome has been reported to be mainly caused by truncating mutations in AHDC1 gene located on chromosome 1p36 …
Novel frameshift mutation in the AHDC1 gene in a Chinese global developmental delay patient: A case report.
Lin SZ, Xie HY, Qu YL, Gao W, Wang WQ, Li JY, Feng XC, Jin CQ. Lin SZ, et al. World J Clin Cases. 2022 Jul 26;10(21):7517-7522. doi: 10.12998/wjcc.v10.i21.7517. World J Clin Cases. 2022. PMID: 36157999 Free PMC article.
BACKGROUND: Xia-Gibbs syndrome (XGS, OMIM: 615829), caused by mutations within the AT-Hook DNA-binding motif-containing protein 1 (AHDC1) gene (OMIM: 615790), located on the short arm of chromosome 1 within the cytogenetic band 1p36.11, contains five noncoding 5 exons, a s …
BACKGROUND: Xia-Gibbs syndrome (XGS, OMIM: 615829), caused by mutations within the AT-Hook DNA-binding motif-containing protein 1 (AHDC1 …
Establishment of iPSC lines and zebrafish with loss-of-function AHDC1 variants: Models for Xia-Gibbs syndrome.
Carvalho LML, Branco EV, Sarafian RD, Kobayashi GS, de Araújo FT, Santos Souza L, Moreira DP, Hsia GSP, Bertollo EMG, Buck CB, da Costa SS, Fialho DM, de Vasconcelos FTGR, Brito LA, de Souza Fraga Machado LE, Ramos IC, Pereira LDV, Koiffmann CP, E Passos-Bueno MRDS, Oliveira Mendes TA, Krepischi ACV, Rosenberg C. Carvalho LML, et al. Gene. 2023 Jun 30;871:147424. doi: 10.1016/j.gene.2023.147424. Epub 2023 Apr 11. Gene. 2023. PMID: 37054903 Free article.
Xia-Gibbs syndrome (XGS) is a syndromic form of intellectual disability caused by heterozygous AHDC1 variants, but the pathophysiological mechanisms underlying this syndrome are still unclear. In this manuscript, we describe the development of two different functional mode …
Xia-Gibbs syndrome (XGS) is a syndromic form of intellectual disability caused by heterozygous AHDC1 variants, but the pathophysiolog …
First reported cases with Xia-Gibbs syndrome from India harboring novel variants in AHDC1.
Danda S, Datar C, Kher A, Deshpande T, Thomas MM, Oommen SP. Danda S, et al. Am J Med Genet A. 2022 Aug;188(8):2501-2504. doi: 10.1002/ajmg.a.62844. Epub 2022 May 21. Am J Med Genet A. 2022. PMID: 35596688
We report here two girls from different Indian families identified with novel variants in the AT Hook DNA Binding Motif Containing 1 gene (AHDC1) causing Xia-Gibbs syndrome. The diagnosis was made by clinical exome in both c …
We report here two girls from different Indian families identified with novel variants in the AT Hook DNA Binding …
52 results