IllnessPendred syndrome, differential diagnosis

NGS +

[Sanger]

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/

• 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)