Fine-Mapping Of 1p36 Deletion, Related To The Manifestation Of Hirsutism

Ivanka Dimova, Nikolova D. and Nesheva D.

International Journal of Sciences, 2013, vol. 2, issue 02, 43-48

Abstract: Rearrangements of 1p36 resulting in deletion are observed in 1 in 5,000 live births. Molecular characterisation of deletions, along with phenotypic correlations, have yielded regions in which to search for genes related to specific features of the syndrome.We report a child with sub-telomeric interstitial 1p36 deletion, spanning 3,683,364-8,822,150 bp (1p36.33-1p36.23) region. The capability of aCGH to provide high-resolution mapping of variation in copy number has been demonstrated. Determining the smallest region of overlap, we narrowed the common region between cases with hirsutism on chromosome 1 band 1p36.23 between 7,500,000 and 8,500,000 bp. Since our patient has overlapped symptom of hirsutism with the patients of proximal 1p36 deletion syndrome, we therefore searched the database to identify potential candidate genes for this feature. We suggest a new candidate-gene for hirsutism – PARK7, which is related to the function of androgens and hyperandrogenaemia. The suggestion is based on the location of this gene in the narrowed deleted 1p36.23 region in patients, affected by hirsutism together with other features of 1p36 monosomy syndrome.

Keywords: mental retardation; array CGH; 1p36 deletion; hirsutism (search for similar items in EconPapers)
Date: 2013
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