A novel mutation in two families with pycnodysostosis

Clinical Dysmorphology

Volumn 22, Issue 3, 2013, Pages 102-105

  Ozdemir, Taha R ^a   Atik, Tahir ^a   Karaca, Emin ^a   Onay, Huseyin ^a   Ozkinay, Ferda ^a   Cogulu, Ozgur ^a  

^a EGE UNIVERSITY   (Turkey)

Author keywords

[No Author keywords available]

Indexed keywords

CELL PROTEIN; CTSK PROTEIN; GENOMIC DNA; UNCLASSIFIED DRUG;

ADOLESCENT; ARTICLE; AUDIOMETRY; BONE RADIOGRAPHY; CASE REPORT; CHILD; CONDUCTION DEAFNESS; DENTAL CARIES; DNA DETERMINATION; ECHOCARDIOGRAPHY; EXOPHTHALMOS; FACE DYSMORPHIA; FAMILIAL DISEASE; FEMALE; FRACTURE; FRAMESHIFT MUTATION; HEART ATRIUM SEPTUM DEFECT; HUMAN; MALE; MUTATIONAL ANALYSIS; NAIL DYSTROPHY; PIGEON THORAX; PRESCHOOL CHILD; PRIORITY JOURNAL; PYCNODYSOSTOSIS; RETROGNATHIA; SCHOOL CHILD; SHORT STATURE; SIBLING;

ADOLESCENT; BONE AND BONES; BONE MATRIX; CATHEPSIN K; CHILD, PRESCHOOL; COLLAGEN TYPE I; FEMALE; HUMANS; MALE; OSTEOCLASTS; OSTEONECTIN; OSTEOPONTIN; PYCNODYSOSTOSIS;

EID: 84879894811     PISSN: 09628827     EISSN: 14735717     Source Type: Journal    
DOI: 10.1097/MCD.0b013e3283619632     Document Type: Article

References (7)

1. Donnarumma M, Regis S, Tappino B, Rosano C, Assereto S, Corsolini F, et al. (2007). Molecular analysis and characterization of nine novel CTSK mutations in twelve patients affected by pycnodysostosis. Hum Mutat 28:524.
2. Li HY, Ma HW, Wang HQ, Ma WH (2009). Molecular analysis of a novel cathepsin K gene mutation in a Chinese child with pycnodysostosis. J Int Med Res 37:264-269.
3. Mujawar Q, Naganoor R, Patil H, Thobbi AN, Ukkali S, Malagi N (2009). Pycnodysostosis with unusual findings: a case report. Cases J 2: 6544-6547.
4. Naeem M, Sheikh S, AhmadW(2009). A mutation in CTSK gene in an autosomal recessive pycnodysostosis family of Pakistani origin. BMC Med Genet 10:76-80.
5. Online Mendelian Inheritance in Man (2010). Johns Hopkins University, Baltimore, MD. MIM number: {601105}: {07/07/2010}. Available at: http://omim.org/. [Accessed 25 May 2012].
6. Soliman AT, Ramadan MA, Sherif A, Aziz Bedair S, Rizk MM (2001). Pycnodysostosis: clinical, radiologic, and endocrine evaluation and linear growth after growth hormone therapy. Metabolism 50:905-911. (Pubitemid 32755006)
7. Xue Y, Cai T, Shi S,WangW, Zhang Y, Mao T, Duan X (2011). Clinical and animal research findings in pycnodysostosis and gene mutations of cathepsin K from 1996 to 2011. Orphanet J Rare Dis 6:20.