A novel mutation in the ABCD1 gene of a Korean boy diagnosed with X-linked adrenoleukodystrophy.

[x-linked adrenoleukodystrophy]

X-linked adrenoleukodystrophy (ALD ; MIM #300100 ) is a neurodegenerative disorder caused by mutations in the ABCD 1 adrenoleukodystrophy protein gene . The ABCD 1 gene mutations have been reported by laboratories in China and Japan , but not in Korea . This case report describes a Korean boy diagnosed with X-ALD . Direct sequencing for the ABCD 1 gene in this boy and his mother detected Tyr 620 His missense mutation , caused by cDNA nucleotide change 1858 T >C in exon 8 (c .1858 T >C ). This missense variant was novel and predicted to be possibly damaging by the PolyPhen and SIFT prediction software . Moreover , this is the first report in Korean .

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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