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Waardenburg syndrome

MedGen UID:
473809
•Concept ID:
C3266898
•
Disease or Syndrome
Synonyms: Mende Syndrome; Ptosis-Epicanthus Syndrome; Van der Hoeve Halbertsma Waardenburg Gualdi Syndrome; Waardenburg's syndrome
SNOMED CT: Waardenburg syndrome (47434006); Waardenburg's syndrome (47434006)
Modes of inheritance:
Autosomal recessive inheritance
MedGen UID:
141025
•Concept ID:
C0441748
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in individuals with two pathogenic alleles, either homozygotes (two copies of the same mutant allele) or compound heterozygotes (whereby each copy of a gene has a distinct mutant allele).
Autosomal dominant inheritance
MedGen UID:
141047
•Concept ID:
C0443147
•
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
Autosomal recessive inheritance (Orphanet)
Autosomal dominant inheritance (Orphanet)
 
Monarch Initiative: MONDO:0018094
OMIM® Phenotypic series: PS193500
Orphanet: ORPHA3440

Definition

Disorder with characteristics of varying degrees of deafness and minor defects in structures arising from neural crest, including pigmentation anomalies of eyes, hair, and skin. Clinical manifestations vary within and between families. Frequent clinical manifestations include congenital sensorineural deafness, heterochromic or hypoplastic blue irides, white forelock or early greying of the scalp hair before the age of 30 years. The disease is genetically heterogeneous. To date, mutations in 6 different genes have been identified: PAX3 (2q36.1), MITF (3p14-p13), SNAI2 (8q11.21), SOX10 (22q13.1), EDNRB (13q22.3), and EDN3 (20q13.32). [from SNOMEDCT_US]

Professional guidelines

PubMed

A comprehensive genotype-phenotype evaluation of eight Chinese probands with Waardenburg syndrome.
Li S, Qin M, Mao S, Mei L, Cai X, Feng Y, He C, Song J
BMC Med Genomics 2022 Nov 3;15(1):230. doi: 10.1186/s12920-022-01379-6. PMID: 36329483Free PMC Article
Analysis of genotype-phenotype relationships in 90 Chinese probands with Waardenburg syndrome.
Wang G, Li X, Gao X, Su Y, Han M, Gao B, Guo C, Kang D, Huang S, Yuan Y, Dai P
Hum Genet 2022 Apr;141(3-4):839-852. Epub 2021 Jun 17 doi: 10.1007/s00439-021-02301-3. PMID: 34142234
Waardenburg syndrome type II: phenotypic findings and diagnostic criteria.
Liu XZ, Newton VE, Read AP
Am J Med Genet 1995 Jan 2;55(1):95-100. doi: 10.1002/ajmg.1320550123. PMID: 7702105

Recent clinical studies

Etiology

SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
Pingault V, Zerad L, Bertani-Torres W, Bondurand N
J Med Genet 2022 Feb;59(2):105-114. Epub 2021 Oct 19 doi: 10.1136/jmedgenet-2021-108105. PMID: 34667088Free PMC Article
Clinical phenocopies of albinism.
Dumitrescu AV, Pfeifer WL, Drack AV
J AAPOS 2021 Aug;25(4):220.e1-220.e8. Epub 2021 Jul 17 doi: 10.1016/j.jaapos.2021.03.015. PMID: 34280564
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
Oculocutaneous albinism.
Grønskov K, Ek J, Brondum-Nielsen K
Orphanet J Rare Dis 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. PMID: 17980020Free PMC Article
Waardenburg syndrome.
Read AP, Newton VE
J Med Genet 1997 Aug;34(8):656-65. doi: 10.1136/jmg.34.8.656. PMID: 9279758Free PMC Article

Diagnosis

Hirschsprung disease.
Montalva L, Cheng LS, Kapur R, Langer JC, Berrebi D, Kyrklund K, Pakarinen M, de Blaauw I, Bonnard A, Gosain A
Nat Rev Dis Primers 2023 Oct 12;9(1):54. doi: 10.1038/s41572-023-00465-y. PMID: 37828049
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
Pingault V, Zerad L, Bertani-Torres W, Bondurand N
J Med Genet 2022 Feb;59(2):105-114. Epub 2021 Oct 19 doi: 10.1136/jmedgenet-2021-108105. PMID: 34667088Free PMC Article
An update on clinical, pathological, diagnostic, and therapeutic perspectives of childhood leukodystrophies.
Ashrafi MR, Amanat M, Garshasbi M, Kameli R, Nilipour Y, Heidari M, Rezaei Z, Tavasoli AR
Expert Rev Neurother 2020 Jan;20(1):65-84. Epub 2019 Dec 12 doi: 10.1080/14737175.2020.1699060. PMID: 31829048
Review and update of mutations causing Waardenburg syndrome.
Pingault V, Ente D, Dastot-Le Moal F, Goossens M, Marlin S, Bondurand N
Hum Mutat 2010 Apr;31(4):391-406. doi: 10.1002/humu.21211. PMID: 20127975
Oculocutaneous albinism.
Grønskov K, Ek J, Brondum-Nielsen K
Orphanet J Rare Dis 2007 Nov 2;2:43. doi: 10.1186/1750-1172-2-43. PMID: 17980020Free PMC Article

Therapy

Rhegmatogenous Retinal Detachment in Waardenburg Syndrome: A Case Report.
Shin J, Lee EK
Korean J Ophthalmol 2022 Oct;36(5):468-470. Epub 2022 Aug 19 doi: 10.3341/kjo.2022.0052. PMID: 35989071Free PMC Article
The color of skin: white diseases of the skin, nails, and mucosa.
Brown AE, Qiu CC, Drozd B, Sklover LR, Vickers CM, Hsu S
Clin Dermatol 2019 Sep-Oct;37(5):561-579. Epub 2019 Jul 17 doi: 10.1016/j.clindermatol.2019.07.018. PMID: 31896410
Transcriptional regulation in melanoma.
Mitra D, Fisher DE
Hematol Oncol Clin North Am 2009 Jun;23(3):447-65, viii. doi: 10.1016/j.hoc.2009.03.003. PMID: 19464596
The developmental biology of melanocytes and its application to understanding human congenital disorders of pigmentation.
Hornyak TJ
Adv Dermatol 2006;22:201-18. doi: 10.1016/j.yadr.2006.09.002. PMID: 17249303
Genetic diseases of hearing.
Spillmann T
Curr Opin Neurol 1994 Feb;7(1):81-7. doi: 10.1097/00019052-199402000-00015. PMID: 8173684

Prognosis

Poliosis circumscripta: overview and underlying causes.
Sleiman R, Kurban M, Succaria F, Abbas O
J Am Acad Dermatol 2013 Oct;69(4):625-33. Epub 2013 Jul 12 doi: 10.1016/j.jaad.2013.05.022. PMID: 23850259
Shah-Waardenburg syndrome.
Mahmoudi A, Rami M, Khattala K, Elmadi A, Afifi MA, Youssef B
Pan Afr Med J 2013;14:60. Epub 2013 Feb 12 doi: 10.11604/pamj.2013.14.60.1543. PMID: 23565307Free PMC Article
Evaluation of pediatric cataracts and systemic disorders.
Trumler AA
Curr Opin Ophthalmol 2011 Sep;22(5):365-79. doi: 10.1097/ICU.0b013e32834994dc. PMID: 21832913
The genetics of deafness.
Nance WE
Ment Retard Dev Disabil Res Rev 2003;9(2):109-19. doi: 10.1002/mrdd.10067. PMID: 12784229
Waardenburg syndrome.
Read AP, Newton VE
J Med Genet 1997 Aug;34(8):656-65. doi: 10.1136/jmg.34.8.656. PMID: 9279758Free PMC Article

Clinical prediction guides

Genetic insights into Tietz albinism-deafness syndrome: A new dominant-negative mutation in MITF.
Yamamoto K, Okamura K, Wakamatsu K, Ito S, Akabane K, Arai Y, Kawaguchi J, Hozumi Y, Suzuki T
Pigment Cell Melanoma Res 2024 Jul;37(4):430-437. Epub 2024 Mar 4 doi: 10.1111/pcmr.13166. PMID: 38439523
Childhood Hearing Impairment in Senegal.
Dia Y, Loum B, Dieng YJKB, Diop JPD, Adadey SM, Aboagye ET, Ba SA, Touré AA, Niang F, Diaga Sarr P, Tidiane Ly CA, Sène ARG, Kock C, Bassier R, Popel K, Ndiaye Diallo R, Wonkam A, Diallo BK
Genes (Basel) 2023 Feb 23;14(3) doi: 10.3390/genes14030562. PMID: 36980833Free PMC Article
Genetic etiology of hearing loss in Iran.
Babanejad M, Beheshtian M, Jamshidi F, Mohseni M, Booth KT, Kahrizi K, Najmabadi H
Hum Genet 2022 Apr;141(3-4):623-631. Epub 2022 Jan 20 doi: 10.1007/s00439-021-02421-w. PMID: 35050400
SOX10: 20 years of phenotypic plurality and current understanding of its developmental function.
Pingault V, Zerad L, Bertani-Torres W, Bondurand N
J Med Genet 2022 Feb;59(2):105-114. Epub 2021 Oct 19 doi: 10.1136/jmedgenet-2021-108105. PMID: 34667088Free PMC Article
Waardenburg syndrome.
Read AP, Newton VE
J Med Genet 1997 Aug;34(8):656-65. doi: 10.1136/jmg.34.8.656. PMID: 9279758Free PMC Article

Recent systematic reviews

Cochlear implantation in Waardenburg syndrome: Systematic review and meta-analysis.
Vanstrum EB, Castellanos CX, Ziltzer RS, Ulloa R, Moen R, Choi JS, Cortessis VK
Int J Pediatr Otorhinolaryngol 2023 Dec;175:111738. Epub 2023 Sep 30 doi: 10.1016/j.ijporl.2023.111738. PMID: 37847940
Hearing Impairment in South Africa and the Lessons Learned for Planetary Health Genomics: A Systematic Review.
Manyisa N, Adadey SM, Wonkam-Tingang E, Yalcouye A, Wonkam A
OMICS 2022 Jan;26(1):2-18. doi: 10.1089/omi.2021.0181. PMID: 35041532Free PMC Article
Outcomes of cochlear implantation for the patients with specific genetic etiologies: a systematic literature review.
Nishio SY, Usami SI
Acta Otolaryngol 2017 Jul;137(7):730-742. Epub 2017 Feb 24 doi: 10.1080/00016489.2016.1276303. PMID: 28498079

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