Details

Autor(en) / Beteiligte

• Utokpat, Pattarapa
• Panmontha, Wipa
• Tongkobpetch, Siraprapa
• Suphapeetiporn, Kanya
• Shotelersuk, Vorasuk

Titel

Novel CTSK mutation resulting in an entire exon 2 skipping in a T hai girl with pycnodysostosis

Ist Teil von

• Pediatrics international, 2013-10, Vol.55 (5), p.651-655

Erscheinungsjahr

2013

Quelle

Wiley Online Library

Beschreibungen/Notizen

• Abstract Pycnodysostosis is a rare autosomal recessive skeletal dysplasia characterized by osteosclerosis, short stature, acro‐osteolysis of the distal phalanges, bone fragility and skull deformities. Mutations in the cathepsin K ( CTSK ) gene, which encodes a lysosomal cysteine protease highly expressed in osteoclasts, have been found to be responsible for the disease. We identified a T hai girl with pycnodysostosis. Her parents were first cousins. Polymerase chain reaction sequencing of the entire coding regions of CTSK of the proband's complementary DNA revealed that the whole exon 2 was skipped. We subsequently amplified exon 2 using genomic DNA , which showed that the patient was homozygous for a c.120 G > A mutation. The mutation was located at the last nucleotide of exon 2. Its presence was confirmed by restriction enzyme analysis using Ban I . The skipping of exon 2 eliminates the normal start codon. The mutation has never been previously reported, thus the current report expands the CTSK mutational spectrum.