Zhang Ao,Dai Chunjuan,Zhao Xuwen,et al.Total intestinal aganglionosis with a novel SOX10 mutation:a case report[J].Journal of Clinical Pediatric Surgery,2025,(04):386-388.[doi:10.3760/cma.j.cn101785-202311018-016]
Total intestinal aganglionosis with a novel SOX10 mutation:a case report
References:
[1] Montalva L,Cheng LS,Kapur R,et al.Hirschsprung disease[J].Nat Rev Dis Primers,2023,9(1):54.DOI:10.1038/s41572-023-00465-y.
[2] Moore SW.Total colonic aganglionosis and Hirschsprung’s disease:a review[J].Pediatr Surg Int,2015,31(1):1-9.DOI:10.1007/s00383-014-3634-3.
[3] Pingault V,Zerad L,Bertani-Torres W,et al.SOX10:20 years of phenotypic plurality and current understanding of its developmental function[J].J Med Genet,2022,59(2):105-114.DOI:10.1136/jmedgenet-2021-108105.
[4] Diposarosa R,Bustam NA,Sahiratmadja E,et al.Literature review:enteric nervous system development,genetic and epigenetic regulation in the etiology of Hirschsprung’s disease[J].Heliyon,2021,7(6):e07308.DOI:10.1016/j.heliyon.2021.e07308.
[5] 张彦,夏慧敏.先天性巨结肠的遗传发病机制及前瞻性队列研究进展[J].临床小儿外科杂志,2018,17(2):90-93.DOI:10.3969/j.issn.1671-6353.2018.02.003.Zhang Y,Xia HM.The genetic pathogenesis of congenital megacolon and progress in prospective cohort studies[J].J Clin Ped Sur,2018,17(2):90-93.DOI:10.3969/j.issn.1671-6353.2018.02.003.
[6] Butler Tjaden NE,Trainor PA.The developmental etiology and pathogenesis of Hirschsprung disease[J].Transl Res,2013,162(1):1-15.DOI:10.1016/j.trsl.2013.03.001.
[7] Bhattarai C,Poudel PP,Ghosh A,et al.Comparative role of SOX10 gene in the gliogenesis of central,peripheral,and enteric nervous systems[J].Differentiation,2022,128:13-25.DOI:10.1016/j.diff.2022.09.001.
[8] Qi JC,Ma L,Guo WW.Recent advances in the regulation mechanism of SOX10[J].J Otol,2022,17(4):247-252.DOI:10.1016/j.joto.2022.08.003.
[9] Sánchez-Mejías A,Watanabe YM,Fernández R,et al.Involvement of SOX10 in the pathogenesis of Hirschsprung disease:report of a truncating mutation in an isolated patient[J].J Mol Med,2010,88(5):507-514.DOI:10.1007/s00109-010-0592-7.
[10] Sangkhathat S,Kusafuka T,Chengkriwate P,et al.Mutations and polymorphisms of Hirschsprung disease candidate genes in Thai patients[J].J Hum Genet,2006,51(12):1126-1132.DOI:10.1007/s10038-006-0064-7.
[11] Touraine RL,Attié-Bitach T,Manceau E,et al.Neurological phenotype in Waardenburg syndrome type 4 correlates with novel SOX10 truncating mutations and expression in developing brain[J].Am J Hum Genet,2000,66(5):1496-1503.DOI:10.1086/302895.
[12] Vi?uela A,Morín M,Villamar M,et al.Genetic and phenotypic heterogeneity in two novel cases of Waardenburg syndrome type IV[J].Am J Med Genet A,2009,149A(10):2296-2302.DOI:10.1002/ajmg.a.33026.
[13] Inoue K,Shilo K,Boerkoel CF,et al.Congenital hypomyelinating neuropathy,central dysmyelination,and Waardenburg-Hirschsprung disease:phenotypes linked by SOX10 mutation[J].Ann Neurol,2002,52(6):836-842.DOI:10.1002/ana.10404.
[14] Unzicker A,Pingault V,Meyer T,et al.A novel SOX10 mutation in a patient with PCWH who developed hypoxic-ischemic encephalopathy after E.coli sepsis[J].Eur J Pediatr,2011,170(11):1475-1480.DOI:10.1007/s00431-011-1539-x.
[15] Lake JI,Heuckeroth RO.Enteric nervous system development:migration,differentiation,and disease[J].Am J Physiol Gastrointest Liver Physiol,2013,305(1):G1-G24.DOI:10.1152/ajpgi.00452.2012.
[16] Cantrell VA,Owens SE,Chandler RL,et al.Interactions between Sox10 and EdnrB modulate penetrance and severity of aganglionosis in the Sox10Dom mouse model of Hirschsprung disease[J].Hum Mol Genet,2004,13(19):2289-2301.DOI:10.1093/hmg/ddh243.
[17] Ziegler MM,Royal RE,Brandt J,et al.Extended myectomy-myotomy.A therapeutic alternative for total intestinal aganglionosis[J].Ann Surg,1993,218(4):504-511.DOI:10.1097/00000658-199310000-00010.
[18] Alhellani H,Mottadelli G,Erculiani M,et al.Skipped aganglionic lengthening transposition (SALT) is highly effective to achieve enteral autonomy in selected patients with intestinal failure secondary to total intestinal aganglionosis[J].Pediatr Surg Int,2024,40(1):79.DOI:10.1007/s00383-024-05661-9.
[19] Kaufman SS,Avitzur Y,Beath SV,et al.New insights into the indications for intestinal transplantation:consensus in the year 2019[J].Transplantation,2020,104(5):937-946.DOI:10.1097/TP.0000000000003065.
[20] Alhawaj AF.Stem cell-based therapy for Hirschsprung disease,do we have the guts to treat?[J].Gene Ther,2022,29(10/11):578-587.DOI:10.1038/s41434-021-00268-4.
Memo
收稿日期:2023-1-5。
通讯作者:胡博,Email:surgeyhubo@163.com