| 词条 | Xia-Gibbs syndrome |
| 释义 |
| name = {{PAGENAME}} | synonyms = AHDC1-related intellectual disability-obstructive sleep apnea-mild dysmorphism syndrome[1][2] | image = | width = | alt = | caption = | pronounce = | field = | symptoms = | complications = | onset = | duration = | types = | causes = | risks = | diagnosis = | differential = | prevention = | treatment = | medication = | prognosis = | frequency = | deaths = }} Xia-Gibbs Syndrome,[3][4] is a newly discovered genetic disorder caused by a heterozygous mutation in the AHDC1 gene[5] (AT hook, DNA binding motif, containing 1) on chromosome 1p36 . 32 Cases worldwide to this date (January 11, 2017) have been diagnosed. Signs and symptomsXia-Gibbs Syndrome is associated with symptoms including global developmental delay, hypotonia, obstructive sleep apnea, seizures, retrocerebellar cyst, delayed myelination, micrognathia and mild dysmorphic features. Diagnosis{{Empty section|date=March 2018}}HistoryIn 2014 a human genetic disorder (Xia-Gibbs Syndrome) caused by de novo mutations in AHDC1 was discovered through whole-exome sequencing.[6] Four patients were identified in the paper which recorded the initial discovery and their clinical features were reported, including global developmental delay, hypotonia, obstructive sleep apnea, intellectual disability and seizures. The publication of the paper and discovery of the new condition was reported in the media including in Science Daily and in Baylor College of Medicine News.[7][8][9] Subsequent research has identified and reported the clinical features of an additional seven patients and there are now known to be twenty confirmed cases.[10] References1. ^{{Cite web|title = Ahdc1-Related Intellectual Disability-Obstructive Sleep Apnea-Mild Dysmorphism Syndrome disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials|url = http://www.malacards.org/card/ahdc1_related_intellectual_disability_obstructive_sleep_apnea_mild_dysmorphism_syndrome|website = www.malacards.org|accessdate = 2015-10-18}} 2. ^{{Cite web|title = Orphanet: AHDC1 related intellectual disability obstructive sleep apnea mild dysmorphism syndrome|url = http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=412069|website = www.orpha.net|accessdate = 2015-10-18}} 3. ^{{Cite web|title = Xia-Gibbs Syndrome - Ontology Report - Rat Genome Database|url = http://rgd.mcw.edu/rgdweb/ontology/annot.html?acc_id=RDO:9001055&species=Mouse|website = rgd.mcw.edu|accessdate = 2015-10-18}} 4. ^{{Cite web|title = Xia-Gibbs Syndrome disease: Malacards - Research Articles, Symptoms, Drugs, Genes, Clinical Trials|url = http://www.malacards.org/card/xia_gibbs_syndrome|website = www.malacards.org|accessdate = 2015-10-18}} 5. ^{{Cite web|title=OMIM Entry - * 615790 - AT-HOOK DNA-BINDING MOTIF-CONTAINING PROTEIN 1; AHDC1 |url=http://www.omim.org/entry/615790#0001 |website=www.omim.org |accessdate=2015-10-18 |deadurl=yes }} 6. ^{{cite journal|last1 = Xia|first1 = Fan|last2 = Bainbridge|first2 = Matthew N.|last3 = Tan|first3 = Tiong Yan|last4 = Wangler|first4 = Michael F.|last5 = Scheuerle|first5 = Angela E.|last6 = Zackai|first6 = Elaine H.|last7 = Harr|first7 = Margaret H.|last8 = Sutton|first8 = V. Reid|last9 = Nalam|first9 = Roopa L.|last10 = Zhu|first10 = Wenmaio|last11 = Nash|first11 = Margot|last12 = Ryan|first12 = Monique M.|last13 = Yaplito-Lee|first13 = Joy|last14 = Hunter|first14 = Jill V.|last15 = Deardoff|first15 = Matthew A.|last16 = Penney|first16 = Samantha J.|last17 = Beaudet|first17 = Arthur L.|last18 = Plon|first18 = Sharon E.|last19 = Boerwinkle|first19 = Eric A.|last20 = Lupski|first20 = James R.|last21 = Eng|first21 = Christina M.|last22 = Muzny|first22 = Donna M.|last23 = Yang|first23 = Yaping|last24 = Gibbs|first24 = Richard A.|title = De Novo Truncating Mutations in AHDC1 in Individuals with Syndromic Expressive Language Delay, Hypotonia, and Sleep Apnea|journal = The American Journal of Human Genetics|date = 1 May 2014|volume = 94|issue = 5|pages = 784–789|doi = 10.1016/j.ajhg.2014.04.006|url = http://www.cell.com/ajhg/references/S0002-9297%2814%2900178-5}} 7. ^{{cite web|url=https://www.sciencedaily.com/releases/2014/05/140501123455.htm}} 8. ^{{cite web|url=https://www.bcm.edu/news/molecular-and-human-genetics/new-syndrome-caused-by-ahdc1-mutations}} 9. ^{{Cite web|title = Peek into AHDC1 Mutation Leads to Discovery of New Syndrome by BCM Researchers|url = http://bionews-tx.com/news/2014/05/06/peek-into-ahdc1-mutation-leads-to-discovery-of-new-syndrome-by-bcm-researchers/|website = BioNews Texas|accessdate = 2015-10-18|language = en-US}} 10. ^{{cite journal|last1=Yang|first1=Hui|last2=Douglas|first2=Ganka|last3=Monaghan|first3=Kristin G.|last4=Retterer|first4=Kyle|last5=Cho|first5=Meghan T.|last6=Escobar|first6=Luis F.|last7=Tucker|first7=Megan E.|last8=Stoler|first8=Joan|last9=Rodan|first9=Lance H.|last10=Stein|first10=Diane|last11=Marks|first11=Warren|last12=Enns|first12=Gregory M.|last13=Platt|first13=Julia|last14=Cox|first14=Rachel|last15=Wheeler|first15=Patricia G.|last16=Crain|first16=Carrie|last17=Calhoun|first17=Amy|last18=Tryon|first18=Rebecca|last19=Richard|first19=Gabriele|last20=Vitazka|first20=Patrik|last21=Chung|first21=Wendy K.|title=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|journal=Cold Spring Harbor Molecular Case Studies|date=October 2015|volume=1|issue=1|pages=a000562|doi=10.1101/mcs.a000562|pmid=27148574|url=http://molecularcasestudies.cshlp.org/content/1/1/a000562.full.pdf+html|pmc=4850891}} 1 : Syndromes |
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