A new homozygous nonsense mutation in LAMA3A underlying laryngo-onycho-cutaneous syndrome.

[junctional epidermolysis bullosa]

Laryngo-onycho-cutaneous (LOC ) syndrome is a subtype of autosomal recessive junctional epidermolysis bullosa in which there is prominent skin and mucosal granulation tissue that can lead to delayed wound healing , laryngeal obstruction and blindness . Thus far , all cases are of Punjabi ancestry and have been shown to result from a founder mutation in the LAMA 3 gene , notably involving a single nucleotide insertion mutation in exon 39 , which is specific to the LAMA 3 A (designated exon 1 of LAMA 3 A ) and not the LAMA 3 B 1 or LAMA 3 B 2 isoforms . Here , we describe a new pedigree with LOC syndrome . Affected individuals (from Iran ) have the characteristic clinicopathological and molecular features of LOC syndrome : prominent granulation tissue (especially affecting the eyes ), normal intensity laminin-332 immunostaining at the dermal-epidermal junction , and autosomal recessive mutations in the LAMA 3 A -specific exon . The pathogenic mutation is a homozygous nonsense mutation , designated p .Gln 57 X , which just affects the laminin-Î±3 a transcript . These findings therefore expand the molecular basis of LOC syndrome .

Diseases
Validation

Diseases presenting "blindness" symptom

aniridia

canavan disease

coats disease

cohen syndrome

congenital toxoplasmosis

cystinuria

dracunculiasis

fabry disease

gm1 gangliosidosis

junctional epidermolysis bullosa

kallmann syndrome

lamellar ichthyosis

neonatal adrenoleukodystrophy

oculocutaneous albinism

x-linked adrenoleukodystrophy

This symptom has already been validated