Research & Literature

Additive dominant effect of a SOX10 mutation underlies a complex phenotype of PCWH.

Ito Y, Inoue N, Inoue YU, et al.

Neurobiology of disease 2015; (80()):1-14.

Hearing loss in Waardenburg syndrome: a systematic review.

Song J, Feng Y, Acke FR, et al.

Clinical genetics 2016; (89(4)):416-425 doi:10.1111/cge.12631.

The Hearing Outcomes of Cochlear Implantation in Waardenburg Syndrome.

Koyama H, Kashio A, Sakata A, et al.

BioMed research international 2016; (2016()):2854736 doi:10.1155/2016/2854736.

[SOX10 mutation is relevant to inner ear malformation in patients with Waardenburg syndrome].

Xu GY, Hao QQ, Zhong LL, et al.

Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery 2016; (51(11)):832-837 doi:10.3760/cma.j.issn.1673-0860.2016.11.006.

Sox10 regulates skin melanocyte proliferation by activating the DNA replication licensing factor MCM5.

Su Z, Zheng X, Zhang X, et al.

Journal of dermatological science 2017; (85(3)):216-225 doi:10.1016/j.jdermsci.2016.12.002.

A de novo deletion mutation in SOX10 in a Chinese family with Waardenburg syndrome type 4.

Wang X, Zhu Y, Shen N, et al.

Scientific reports 2017; (7()):41513 doi:10.1038/srep41513.

Guidelines for the diagnosis and management of Hirschsprung-associated enterocolitis.

Gosain A, Frykman PK, Cowles RA, et al.

Pediatric surgery international 2017; (33(5)):517-521 doi:10.1007/s00383-017-4065-8.

Guidelines for the management of postoperative obstructive symptoms in children with Hirschsprung disease.

Langer JC, Rollins MD, Levitt M, et al.

Pediatric surgery international 2017; (33(5)):523-526 doi:10.1007/s00383-017-4066-7.

Enterocolitis in a Child With Hirschsprung Disease.

Guillaume AWD, Miller AC, Nguyen MC

Pediatric emergency care 2019; (35(7)):e131-e132 doi:10.1097/PEC.0000000000001108.

Waardenburg Syndrome: An Unusual Indication of Cochlear Implantation Experienced in 11 Patients.

Bayrak F, Çatlı T, Atsal G, et al.

The journal of international advanced otology 2017; (13(2)):230-232 doi:10.5152/iao.2017.3017.

HSP and deafness: Neurocristopathy caused by a novel mosaic SOX10 mutation.

Donkervoort S, Bharucha-Goebel D, Yun P, et al.

Neurology. Genetics 2017; (3(3)):e151 doi:10.1212/NXG.0000000000000151.

Waardenburg syndrome: a rare cause of inherited neuropathy due to SOX10 mutation.

Bogdanova-Mihaylova P, Alexander MD, Murphy RPJ, Murphy SM

Journal of the peripheral nervous system : JPNS 2017; (22(3)):219-223 doi:10.1111/jns.12221.

[Hirschsprung-associated enterocolitis: Observational study in a paediatric emergency care unit].

Sellers M, Udaondo C, Moreno B, et al.

Anales de pediatria 2018; (88(6)):329-334 doi:10.1016/j.anpedi.2017.07.002.

Sox8 and Sox10 jointly maintain myelin gene expression in oligodendrocytes.

Turnescu T, Arter J, Reiprich S, et al.

Glia 2018; (66(2)):279-294 doi:10.1002/glia.23242.

Identification of a Novel De Novo Heterozygous Deletion in the SOX10 Gene in Waardenburg Syndrome Type II Using Next-Generation Sequencing.

Li H, Jin P, Hao Q, et al.

Genetic testing and molecular biomarkers 2017; (21(11)):681-685 doi:10.1089/gtmb.2016.0421.

Hirschsprung disease - integrating basic science and clinical medicine to improve outcomes.

Heuckeroth RO

Nature reviews. Gastroenterology & hepatology 2018; (15(3)):152-167 doi:10.1038/nrgastro.2017.149.

A patient with peripheral demyelinating neuropathy, central dysmyelinating leukodystrophy, Waardenburg syndrome, and severe hypoganglionosis associated with a novel SOX10 mutation.

Akutsu Y, Shirai K, Takei A, et al.

American journal of medical genetics. Part A 2018; (176(5)):1195-1199 doi:10.1002/ajmg.a.38657.

Vestibular Rehabilitation for Children.

Rine RM

Seminars in hearing 2018; (39(3)):334-344 doi:10.1055/s-0038-1666822.

Reliability of the Hirschsprung-Associated Enterocolitis Score in Clinical Practice.

Dore M, Vilanova Sanchez A, Triana Junco P, et al.

European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie 2019; (29(1)):132-137 doi:10.1055/s-0038-1677046.

Experience with the Redo Pull-Through for Hirschsprung's Disease.

Gupta DK, Khanna K, Sharma S

Journal of Indian Association of Pediatric Surgeons 2019; (24(1)):45-51 doi:10.4103/jiaps.JIAPS_52_18.

Waardenburg Syndrome Type IV De Novo SOX10 Variant Causing Chronic Intestinal Pseudo-Obstruction.

Hogan AR, Rao KA, Thorson WL, et al.

Pediatric gastroenterology, hepatology & nutrition 2019; (22(5)):487-492 doi:10.5223/pghn.2019.22.5.487.

Surgery, Surgical Pathology, and Postoperative Management of Patients With Hirschsprung Disease.

Smith C, Ambartsumyan L, Kapur RP

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2020; (23(1)):23-39 doi:10.1177/1093526619889436.

Postoperative Pullthrough Obstruction in Hirschsprung Disease: Etiologies and Diagnosis.

Kapur RP, Smith C, Ambartsumyan L

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2020; (23(1)):40-59 doi:10.1177/1093526619890735.

Diagnosis of Hirschsprung Disease.

Ambartsumyan L, Smith C, Kapur RP

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2020; (23(1)):8-22 doi:10.1177/1093526619892351.

Myrf guides target gene selection of transcription factor Sox10 during oligodendroglial development.

Aprato J, Sock E, Weider M, et al.

Nucleic acids research 2020; (48(3)):1254-1270 doi:10.1093/nar/gkz1158.

An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.

Ashrafi MR, Amanat M, Garshasbi M, et al.

Expert review of neurotherapeutics 2020; (20(1)):65-84 doi:10.1080/14737175.2020.1699060.

A novel frameshift mutation in SOX10 causes Waardenburg syndrome with peripheral demyelinating neuropathy, visual impairment and the absence of Hirschsprung disease.

Burke EA, Reichard KE, Wolfe LA, et al.

American journal of medical genetics. Part A 2020; (182(5)):1278-1283 doi:10.1002/ajmg.a.61542.

Assessment of Patients with Hirschsprung Disease and the Use of Laparoscopy.

Demir M, Akin M, Kaba M, et al.

Sisli Etfal Hastanesi tip bulteni 2020; (54(2)):218-221 doi:10.14744/SEMB.2018.84565.

Novel SOX10 Mutations in Waardenburg Syndrome: Functional Characterization and Genotype-Phenotype Analysis.

Thongpradit S, Jinawath N, Javed A, et al.

Frontiers in genetics 2020; (11()):589784 doi:10.3389/fgene.2020.589784.

Phenotypic continuum between Waardenburg syndrome and idiopathic hypogonadotropic hypogonadism in humans with SOX10 variants.

Rojas RA, Kutateladze AA, Plummer L, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2021; (23(4)):629-636 doi:10.1038/s41436-020-01051-3.

Four mutations in MITF, SOX10 and PAX3 genes were identified as genetic causes of waardenburg syndrome in four unrelated Iranian patients: case report.

Zardadi S, Rayat S, Doabsari MH, et al.

BMC pediatrics 2021; (21(1)):70 doi:10.1186/s12887-021-02521-6.

A novel case of concurrent occurrence of demyelinating-polyneuropathy-causing PMP22 duplication and SOX10 gene mutation producing severe hypertrophic neuropathy.

Matsuda N, Ootsuki K, Kobayashi S, et al.

BMC neurology 2021; (21(1)):243 doi:10.1186/s12883-021-02256-y.

Autopsy Study of Calretinin Immunohistochemistry in the Anorectal Canal in Young Infants and Potential Implications for Rectal Biopsy Approach in the Neonatal Period.

Rytting H, Dureau ZJ, Vega JV, et al.

Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society 2021; (24(6)):542-550 doi:10.1177/10935266211030172.

Reoperative techniques and management in Hirschsprung disease: a narrative review.

Demehri FR, Dickie BH

Translational gastroenterology and hepatology 2021; (6()):42 doi:10.21037/tgh-20-224.

Direct Interaction of Sox10 With Cadherin-19 Mediates Early Sacral Neural Crest Cell Migration: Implications for Enteric Nervous System Development Defects.

Huang T, Hou Y, Wang X, et al.

Gastroenterology 2022; (162(1)):179-192.e11 doi:10.1053/j.gastro.2021.08.029.

SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.

Pingault V, Zerad L, Bertani-Torres W, Bondurand N

Journal of medical genetics 2022; (59(2)):105-114 doi:10.1136/jmedgenet-2021-108105.

Outcome of Total Colonic Aganglionosis Involving the Small Bowel Depends on Bowel Length, Liver Disease, and Enterocolitis.

Payen E, Talbotec C, Chardot C, et al.

Journal of pediatric gastroenterology and nutrition 2022; (74(5)):582-587 doi:10.1097/MPG.0000000000003415.

Current understanding of Hirschsprung-associated enterocolitis: Pathogenesis, diagnosis and treatment.

Lewit RA, Kuruvilla KP, Fu M, Gosain A

Seminars in pediatric surgery 2022; (31(2)):151162 doi:10.1016/j.sempedsurg.2022.151162.

Neurological Waardenburg-Shah syndrome: a diagnostic challenge in a child with skin hypopigmentation and neurological manifestation.

Ng BW, Lee JS, Toh TH, Ngu LH

BMJ case reports 2022; (15(6)) doi:10.1136/bcr-2022-250360.

Hearing characteristics and cochlear implant effects in children with Waardenburg syndrome: a case series.

Fan W, Ni K, Chen F, Li X

Translational pediatrics 2022; (11(7)):1234-1241 doi:10.21037/tp-22-271.

Quantitative assessment of low-level parental mosaicism of SNVs and CNVs in Waardenburg syndrome.

Li X, Huang S, Wang G, et al.

Human genetics 2023; (142(3)):419-430 doi:10.1007/s00439-022-02517-x.

Prognostic factors of postoperative Hirschsprung-associated enterocolitis: a cohort study.

Chantakhow S, Tepmalai K, Singhavejsakul J, et al.

Pediatric surgery international 2023; (39(1)):77 doi:10.1007/s00383-023-05364-7.

Pediatric Bowel Management Options and Organizational Aspects.

Bokova E, Svetanoff WJ, Levitt MA, Rentea RM

Children (Basel, Switzerland) 2023; (10(4)) doi:10.3390/children10040633.

A 22q13.1 duplication in mosaicism including SOX10.

Bertani-Torres W, Serey-Gaut M, de Oliveira J, et al.

American journal of medical genetics. Part A 2023; (191(12)):2813-2818 doi:10.1002/ajmg.a.63362.

Outcomes of Cochlear implantation in early-deafened patients with Waardenburg syndrome: A systematic review and narrative synthesis.

Lovett A, Eastwood M, Metcalfe C, et al.

Laryngoscope investigative otolaryngology 2023; (8(4)):1094-1107 doi:10.1002/lio2.1110.

State of the Art Bowel Management for Pediatric Colorectal Problems: Hirschsprung Disease.

Bokova E, Prasade N, Janumpally S, et al.

Children (Basel, Switzerland) 2023; (10(8)) doi:10.3390/children10081418.

Developing a serious game for gaze stability rehabilitation in children with vestibular hypofunction.

Ortega Solís J, Reynard P, Spruyt K, et al.

Journal of neuroengineering and rehabilitation 2023; (20(1)):128 doi:10.1186/s12984-023-01249-x.

Hirschsprung disease.

Montalva L, Cheng LS, Kapur R, et al.

Nature reviews. Disease primers 2023; (9(1)):54 doi:10.1038/s41572-023-00465-y.

Cochlear implantation in Waardenburg syndrome: Systematic review and meta-analysis.

Vanstrum EB, Castellanos CX, Ziltzer RS, et al.

International journal of pediatric otorhinolaryngology 2023; (175()):111738 doi:10.1016/j.ijporl.2023.111738.

Impact of Colorectal Nurse Specialist supervised parental administration of rectal washouts on Hirschsprung's disease outcomes: a retrospective review.

Banerjee DB, Appasawmy N, Caldwell S, et al.

Pediatric surgery international 2024; (40(1)):107 doi:10.1007/s00383-024-05687-z.

Guidelines of the French Society of Otorhinolaryngology and Head and Neck Surgery (SFORL) for vestibular rehabilitation in children with vestibular dysfunction. A systematic review.

Reynard P, Ortega-Solís J, Tronche S, et al.

Archives de pediatrie : organe officiel de la Societe francaise de pediatrie 2024; (31(4)):217-223 doi:10.1016/j.arcped.2024.02.006.

Hirschsprung's disease. Management.

Morera C, Nurko S

Alimentary pharmacology & therapeutics 2024; (60 Suppl 1()):S66-S76 doi:10.1111/apt.18068.

Genetic Variability of SOX10-Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome.

Graziani L, Carriero ML, Pozzi F, et al.

Molecular syndromology 2024; (15(4)):339-346 doi:10.1159/000536574.

Evaluation and Management of Total Colonic Hirschsprung Disease: A Comprehensive Review From the American Pediatric Surgical Association (APSA) Hirschsprung Disease Interest Group.

Rentea RM, Bokova E, Frischer JS, et al.

Journal of pediatric surgery 2024; (59(11)):161677 doi:10.1016/j.jpedsurg.2024.08.017.

Hirschsprung-associated enterocolitis: a comprehensive review.

Ziogas IA, Kuruvilla KP, Fu M, Gosain A

World journal of pediatric surgery 2024; (7(3)):e000878 doi:10.1136/wjps-2024-000878.

Syndromic Association of Depigmentation With Congenital Hearing Loss: A Review of Three Children With Auditory Pigmentary Disorders.

Ghosh S, Dutta M, Mukherjee D, et al.

Ear, nose, & throat journal 2024; 1455613241306049 doi:10.1177/01455613241306049.

A novel frameshift mutation of SOX10 identified in Waardenburg syndrome type 2.

Han W, Yang R, Chen X, et al.

Human molecular genetics 2025; (34(8)):668-672 doi:10.1093/hmg/ddaf010.

Hirschsprung-associated Enterocolitis Action Plan: A Pictographic Tool for Caregivers of Children With Hirschsprung Disease.

Bokova E, Elhalaby I, Dow B, et al.

Journal of pediatric surgery 2025; (60(6)):162269 doi:10.1016/j.jpedsurg.2025.162269.

Pathology Seen in Myenteric Plexus in Two Subjects With Waardenburg Syndrome.

Ersson B, Gustafson E, Danielson J, Alafuzoff I

Neurogastroenterology and motility 2025; (37(12)):e70073 doi:10.1111/nmo.70073.

Waardenburg Syndrome Type 4 in Mongolian Children: Genetic and Clinical Characterization.

Gombojav B, Erdenechuluun J, Batsaikhan T, et al.

International journal of molecular sciences 2025; (26(13)) doi:10.3390/ijms26136258.

Surgical pathology of Hirschsprung disease (HSCR).

Monforte HL, Wilsey M, Gonzalez R

World journal of pediatric surgery 2025; (8(3)):e000882 doi:10.1136/wjps-2024-000882.

Bilateral vestibular hypofunction in children.

Loos E, Gerdsen M, Hazen M, et al.

International journal of pediatric otorhinolaryngology 2025; (196()):112506 doi:10.1016/j.ijporl.2025.112506.

Vestibular Deficit in Patients with Waardenburg Syndrome.

Benifla M, Serey-Gaut M, Bois E, et al.

Biomedicines 2025; (13(8)) doi:10.3390/biomedicines13082021.

Clinical Characteristics and Identification of Pathogenic Variant in a Large Chinese Family With Waardenburg Syndrome.

Hou F, Li Y, Cao L, et al.

Molecular genetics & genomic medicine 2025; (13(9)):e70134 doi:10.1002/mgg3.70134.

Long-Term Hearing, Language, and Educational Outcomes After Cochlear Implantation in Children With Waardenburg Syndrome.

Arai S, Tomioka R, Shirai K, et al.

Cureus 2025; (17(11)):e97615 doi:10.7759/cureus.97615.

[Incomplete penetrance of SOX10 gene mutation in a family with Waardenburg syndrome type Ⅳ].

Liu D, Li A, Yu C, et al.

Lin chuang er bi yan hou tou jing wai ke za zhi = Journal of clinical otorhinolaryngology head and neck surgery 2026; (40(3)):296-300 doi:10.13201/j.issn.2096-7993.2026.03.014.

Cochlear duct length variability in prelingual sensorineural hearing loss: Emphasis on Waardenburg syndrome and implications for cochlear implantation.

Shin KH, Kim CH, Kim Y, et al.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2026; (283(5)):3051-3060 doi:10.1007/s00405-026-10046-w.

Radiologic Phenotyping in Patients with SOX10 Pathogenic Variants: Insights into Neck, Brain, and Temporal Bone Abnormalities.

Gentile F, Clement E, Rajput K, et al.

AJNR. American journal of neuroradiology 2026; (47(10)):2609-2614 doi:10.3174/ajnr.A9322.

Neonatal Hypoganglionosis Mimicking Hirschsprung Disease in a Resource-Limited Setting: A Case Report.

Afara I, Akil H, Gebara T, et al.

Clinical medicine insights. Case reports 2026; (19()):11795476261457677 doi:10.1177/11795476261457677.

Long-term outcomes of transanal endorectal pull-through for Hirschsprung disease: the role of a dedicated surgical team and structured follow-up in a 17-year cohort.

Balcı Ö, Karaman A, Karaman İ

Pediatric surgery international 2026; (42(1)).

Gastrointestinal symptoms and association to food items in children with hirschsprung disease: a multinational patient-reported outcome study from Latin America and Spain.

Scaramella C, Telborn L, Davidson J, et al.

Pediatric surgery international 2026; (42(1)).

Evaluation of manual and robot-assisted electrode placement in malformed cochleae using imaging-based patient specific 3D models.

Molnár FA, Matuz M, Tobiás Z, et al.

European archives of oto-rhino-laryngology : official journal of the European Federation of Oto-Rhino-Laryngological Societies (EUFOS) : affiliated with the German Society for Oto-Rhino-Laryngology - Head and Neck Surgery 2026; doi:10.1007/s00405-026-10611-3.

Towards Policy Integration of Vestibular Management in Pediatric Hearing Health Care: Global Service Delivery Gaps with Relevance to Low-Income and Middle-Income Countries.

Khoza-Shangase K, Gina A, Mbhele S

Journal of the American Academy of Audiology 2026; (37(4)):379-396 doi:10.3766/jaaa.250099.

Comparison of Surgical Approaches for Hirschsprung's Disease: A Network Meta-Analysis.

Ku HC, Wei CH, Huang YJ, Huang FH

Journal of pediatric surgery 2026; 163568 doi:10.1016/j.jpedsurg.2026.163568.