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J Med Genet 2001;38:127-128 ( February )

Letters to the editor

Keratosis pilaris/ulerythema ophryogenes and 18p deletion: is it possible that the LAMA1 gene is involved?

The first 150 words of the full text of this article appear below.

EDITOR---In 1994, we reported a 13 year old patient with 18p deletion and ulerythema ophryogenes and keratosis pilaris.1 We then suggested that this observation may be helpful in future attempts to localise the gene defect responsible for follicular genokeratoses, even though similar skin lesions have been reported in a number of patients with various chromosomal disorders, including sex chromosome aneuploidies. Remarkably, in addition to the report by Horsley et al,2 two further observations of this association were recently reported.3 4 This confirmed the presence of a true association and prompted a further look into the material that we obtained from the biopsy of our patient,1 searching for possible genes localised in the deletion area that may have a role in the pathogenesis of keratosis pilaris or ulerythema ophryogenes.

Indeed, the human laminin alpha 1 chain is encoded by an approximately 9.5 kb mRNA transcribed from the LAMA1 gene, which is located on . . . [Full text of this article]







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