Identification and characterization of cryptic SHOX intragenic deletions in three Japanese patients with Léri–Weill dyschondrosteosis View Full Text


Ontology type: schema:ScholarlyArticle      Open Access: True


Article Info

DATE

2008-03-06

AUTHORS

Maki Fukami, Sumito Dateki, Fumiko Kato, Yukihiro Hasegawa, Hiroshi Mochizuki, Reiko Horikawa, Tsutomu Ogata

ABSTRACT

Although short-stature homeobox-containing gene (SHOX ) haploinsufficiency is responsible for Léri–Weill dyschondrosteosis (LWD), the molecular defect has not been identified in ∼20% of Japanese LWD patients. Furthermore, although high prevalence of microdeletions affecting SHOX is primarily ascribed to the presence of repeat sequences such as Alu elements around SHOX, it remains to be determined whether microdeletions are actually mediated by repeat sequences. We performed multiple ligation probe amplification (MLPA) assay in six Japanese LWD patients with apparently normal SHOX, followed by fluorescent in situ hybridization (FISH) analysis and sequencing for polymerase chain reaction (PCR) products encompassing the deletion junctions in patients with abnormal MLPA patterns. Consequently, heterozygous intragenic deletions were identified in three cases, i.e., a 5,906-bp deletion involving exons 4–5 in case 1, a 5,594-bp deletion involving exons 4–6a in case 2, and a 50,199-bp deletion involving exons 4–6b in case 3. The deletion breakpoints of cases 1 and 2 were present in nonrepeat sequences, whereas those of case 3 resided within Alu elements. The results suggest that cryptic SHOX intragenic deletions account for a small fraction of LWD and that microdeletions affecting SHOX can be generated by repeat-sequence-mediated aberrant recombinations and by nonhomologous end joining. More... »

PAGES

454-459

Identifiers

URI

http://scigraph.springernature.com/pub.10.1007/s10038-008-0269-z

DOI

http://dx.doi.org/10.1007/s10038-008-0269-z

DIMENSIONS

https://app.dimensions.ai/details/publication/pub.1039484233

PUBMED

https://www.ncbi.nlm.nih.gov/pubmed/18322641


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