[Identification of a novel PAX6 mutation in a family with congenital aniridia].

[aniridia]

To detect potential mutation in a Chinese family where two individuals were affected with hereditary congenital aniridia .Peripheral blood samples were taken for genomic DNA extraction . All of the 15 exons of PAX 6 gene were amplified with PCR . The product were purified with gel electrophoresis and sequenced .In both patients , a novel deletion mutation (c .957 -958 delCA ) in exon 13 of the PAX 6 gene was identified , which has produced a terminator codon . The same mutation was not found in healthy controls .A c .957 -958 delCA mutation of PAX 6 gene is probably the cause of aniridia in this Chinese family .

Diseases
Validation

Diseases presenting "blood samples" symptom

22q11.2 deletion syndrome

acute rheumatic fever

adrenomyeloneuropathy

alpha-thalassemia

aniridia

aromatase deficiency

benign recurrent intrahepatic cholestasis

canavan disease

classical phenylketonuria

cohen syndrome

congenital adrenal hyperplasia

congenital toxoplasmosis

cushing syndrome

dystrophic epidermolysis bullosa

epidermolysis bullosa simplex

erdheim-chester disease

erythropoietic protoporphyria

esophageal adenocarcinoma

fabry disease

familial mediterranean fever

heparin-induced thrombocytopenia

hirschsprung disease

hodgkin lymphoma, classical

homocystinuria without methylmalonic aciduria

kallmann syndrome

oculocutaneous albinism

oligodontia

oral submucous fibrosis

papillon-lefèvre syndrome

phenylketonuria

primary effusion lymphoma

scrub typhus

sneddon syndrome

systemic capillary leak syndrome

triple a syndrome

typhoid

von hippel-lindau disease

waldenström macroglobulinemia

well-differentiated liposarcoma

wolf-hirschhorn syndrome

x-linked adrenoleukodystrophy

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