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 "language development" symptom

22q11.2 deletion syndrome

cohen syndrome

kabuki syndrome

pendred syndrome

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