Waardenburg syndrome type 2E, without neurologic involvement

MedGen UID:: 432987
•Concept ID:: CN069052
•: Disease or Syndrome

Term Hierarchy

GTR
MeSH

CClinical test, RResearch test, OOMIM, GGeneReviews, VClinVar

CROGVHereditary hearing loss and deafness

Hereditary hearing loss and deafness
- Waardenburg syndrome type 2
  - Waardenburg syndrome type 2E
    - Waardenburg syndrome type 2E, without neurologic involvement

Recent clinical studies

Etiology

Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations.

Elmaleh-Bergès M, Baumann C, Noël-Pétroff N, Sekkal A, Couloigner V, Devriendt K, Wilson M, Marlin S, Sebag G, Pingault V
AJNR Am J Neuroradiol 2013 Jun-Jul;34(6):1257-63. Epub 2012 Dec 13 doi: 10.3174/ajnr.A3367. PMID: 23237859 Free PMC Article

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Diagnosis

A de novo mutation of the SOX10 gene associated with inner ear malformation in a Guangxi family with Waardenburg syndrome type II.

Niu Z, Lai Y, Tan S, Tang F, Tang X, Su Y, Liu L, Xie L, Fang Q, Xie M, Tang A
Int J Pediatr Otorhinolaryngol 2021 Jun;145:110711. Epub 2021 Apr 14 doi: 10.1016/j.ijporl.2021.110711. PMID: 33865100

Spectrum of temporal bone abnormalities in patients with Waardenburg syndrome and SOX10 mutations.

See all (2)

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Waardenburg syndrome type 2E, without neurologic involvement

Term Hierarchy

Recent clinical studies

Etiology

Diagnosis

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