©istock.com/Andrea Obzerova
Interdisciplinary CompetenceMolecular Diagnostics
Know how in the analysis of genetic material.
For the benefit of patients.

IllnessPendred syndrome, differential diagnosis

Summary

Short information

A curated panel containing 3 or 9 genes, respectively, for the comprehensive differential diagnostic analysis of the suspected Pendred syndrome

ID
PP8010
Number of genes
8 Accredited laboratory test
Examined sequence length
4,7 kb (Core-/Core-canditate-Genes)
12,1 kb (Extended panel: incl. additional genes)
Analysis Duration
on request
Material
  • EDTA-anticoagulated blood (3-5 ml)
Diagnostic indications

NGS +

[Sanger]

 

Gene panel

Selected genes

NameExon Length (bp)OMIM-GHeredity
FOXI11137AR
KCNJ101140AR
SLC26A42343AR
EYA11779AD
NKX2-11206AD
SIX1855AD
SIX52220AD
THRB1386AD, AR

Informations about the disease

Clinical Comment

Pendred syndrome (PDS) is clinically diagnosed in the patient with sensorineural hearing loss (SNHL), characteristic temporal bone abnormalities and euthyroid goiter. The clinical diagnosis of nonsyndromic enlarged vestibular aqueduct (NSEVA) is made in a patient with SNHL and enlarged vestibular aqueducts. Goiter may develop in Pendred syndrome in only half of affected individuals in late childhood to early adulthood, whereas this is never the case in NSEVA. PDS/NSEVA encompasses a spectrum of SNHL that is usually congenital, often severe to profoundly marked with vestibular dysfunction and bilaterally enlarged vestibular aqueduct with or without cochlear hypoplasia. At least 50% of patients with Pendred syndrome and/or NSEVA have biallelic mutations in the SLC26A4 gene or double heterozygosity for a pathogenic variant in the SLC26A4 gene and a mutation in FOXI1 or in the KCNJ10 gene according to the digenic inheritance pattern. The DNA diagnostic yield in an EVA cohort was 68% in a Chinese cohort.

Reference: https://www.ncbi.nlm.nih.gov/books/NBK1467/

 

Synonyms
  • Alias: Deafness with goiter
  • Allelic: Anterior segment anomalies with/-out cataract (EYA1)
  • Allelic: Deafness, AR 4, with enlarged vestibular aqueduct, EVA (SLC26A4)
  • Allelic: Thyroid cancer, nonmedullary, 1 (NKX2-1)
  • Branchiootic syndrome 1 (EYA1)
  • Branchiootic syndrome 3 (SIX1)
  • Branchiootorenal syndrome 1, with/-out cataracts (EYA1)
  • Branchiootorenal syndrome 2 (SIX5)
  • Chorea, hereditary benign (NKX2-1)
  • Choreoathetosis, hypothyroidism + neonatal respiratory distress (NKX2-1)
  • Deafness, AD 23 (SIX1)
  • Enlarged vestibular aqueduct [EVA] (FOXI1)
  • Enlarged vestibular aqueduct [EVA], Dig (KCNJ10)
  • Otofaciocervical syndrome (EYA1)
  • SESAME syndrome: SEizures, Sensorin. deafness, Ataxia, Ment. retard., Electrolyte imbal. (KCNJ10)
  • Thyroid hormone resistance (THRB)
  • Thyroid hormone resistance, AR (THRB)
  • Thyroid hormone resistance, selective pituitary (THRB)
Heredity, heredity patterns etc.
  • AD
  • AR
OMIM-Ps
  • Multiple OMIM-Ps
ICD10 Code
E07.8

Bioinformatics and clinical interpretation

No text defined