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 "first report" symptom

achondroplasia

alexander disease

aniridia

cadasil

canavan disease

child syndrome

cohen syndrome

congenital toxoplasmosis

cowden syndrome

cushing syndrome

cutaneous mastocytosis

cystinuria

dedifferentiated liposarcoma

dentinogenesis imperfecta

dracunculiasis

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

esophageal squamous cell carcinoma

fabry disease

familial mediterranean fever

focal myositis

harlequin ichthyosis

hirschsprung disease

hodgkin lymphoma, classical

holt-oram syndrome

homocystinuria without methylmalonic aciduria

inclusion body myositis

junctional epidermolysis bullosa

kabuki syndrome

kindler syndrome

krabbe disease

lamellar ichthyosis

liposarcoma

lymphangioleiomyomatosis

monosomy 21

neonatal adrenoleukodystrophy

neuralgic amyotrophy

oculocutaneous albinism

oligodontia

omenn syndrome

pendred syndrome

pleomorphic liposarcoma

primary hyperoxaluria type 1

pyomyositis

pyruvate dehydrogenase deficiency

scrub typhus

severe combined immunodeficiency

sneddon syndrome

triple a syndrome

typhoid

waldenström macroglobulinemia

werner syndrome

wiskott-aldrich syndrome

x-linked adrenoleukodystrophy

zellweger syndrome

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