A1555G homoplasmic mutation from A1555G heteroplasmic mother with Pendred syndrome.

[pendred syndrome]

Hearing loss (HL ) is genetically heterogeneous and can be caused by mutations in multiple gene lesions . Pendred syndrome , caused by mutation of SLC 26 A 4 , is one of the common causes of recessive syndromic profound HL . Mitochondrial mutation is another rare cause of genetic HL , resulting in late onset sensorineural HL . Recently , we evaluated a young woman representing bilateral progressive moderate HL with delayed language development , along with her family . Hearing test , temporal bone computed tomography , and genetic evaluation of GJB 2 , MT -RNR 1 , SLC 26 A 4 gene mutations were performed on each family member . Her mother was prelingually deaf and displayed enlarged vestibular aqueduct (EVA ) along with goiter . Interestingly , subject 's mother showed both SLC 26 A 4 mutation and mitochondrial A 1555 G heteroplasmic mutation at the same time . The sisters did not display EVA or goiter . Although the subject 's older sister showed both prelingual deafness and mitochondrial A 1555 G heteroplasmy , her younger sister showed only A 1555 G homoplasmy , which suggests A 1555 G homoplasmy as the genetic cause of hearing loss . This is the first report of HL caused by mitochondrial A 1555 G homoplasmy from a mother with Pendred syndrome coexistent with A 1555 G heteroplasmy in the Korean population .

Diseases
Validation

Diseases presenting "hearing loss" symptom

22q11.2 deletion syndrome

achondroplasia

adrenomyeloneuropathy

alexander disease

benign recurrent intrahepatic cholestasis

canavan disease

cohen syndrome

congenital toxoplasmosis

dentinogenesis imperfecta

fabry disease

familial mediterranean fever

heparin-induced thrombocytopenia

hirschsprung disease

holt-oram syndrome

homocystinuria without methylmalonic aciduria

hydrocephalus with stenosis of the aqueduct of sylvius

kabuki syndrome

kallmann syndrome

neonatal adrenoleukodystrophy

pendred syndrome

von hippel-lindau disease

wolf-hirschhorn syndrome

This symptom has already been validated