Herlitz junctional epidermolysis bullosa with a novel mutation in LAMB3.

[junctional epidermolysis bullosa]

Herlitz junctional epidermolysis bullosa (H-JEB ) is a rare , heritable mechanobullous disease that affects infants at birth and causes early death . This disease is primarily caused by compound heterozygous or homozygous mutations in one of three genes affecting the function of one of the three chains of the laminin-332 (formerly laminin-5 ) protein . Here we report a case of H-JEB with a novel heterozygous mutation in LAMB 3 ,c .1597 G >A (p .Ala 533 Thr ). These findings attest to the molecular heterogeneity of JEB and emphasize the importance of genetic analysis to help make an accurate diagnosis , predict clinical prognosis , and identify phenotypic-genotypic relationships that may aid in prenatal diagnosis and genetic counseling for the future .

Diseases
Validation

Diseases presenting "compound heterozygous or homozygous mutations in one of three genes affecting the function of one of the three chains of the laminin-332 (formerly laminin-5) protein" symptom

junctional epidermolysis bullosa

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