scholarly journals RANK‐dependent autosomal recessive osteopetrosis: Characterization of five new cases with novel mutations

2012 ◽  
Vol 27 (2) ◽  
pp. 342-351 ◽  
Author(s):  
Alessandra Pangrazio ◽  
Barbara Cassani ◽  
Matteo M Guerrini ◽  
Julie C Crockett ◽  
Veronica Marrella ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutations ◽  
Autosomal Recessive Osteopetrosis

scholarly journals Erratum to: Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications

2012 ◽  
Vol 23 (11) ◽  
pp. 2719-2719
Author(s):  
A. Pangrazio ◽  
M. E. Caldana ◽  
N. Lo Iacono ◽  
S. Mantero ◽  
P. Vezzoni ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutations ◽  
Autosomal Recessive Osteopetrosis

scholarly journals Characterization of six novel mutations in CYBA: the gene causing autosomal recessive chronic granulomatous disease

2008 ◽  
Vol 141 (6) ◽  
pp. 848-851 ◽  
Author(s):  
Shahram Teimourian ◽  
Elham Zomorodian ◽  
Mohsen Badalzadeh ◽  
AliReza Pouya ◽  
Caroline Kannengiesser ◽  
...  
Keyword(s):  
Chronic Granulomatous Disease ◽  
Autosomal Recessive ◽  
Granulomatous Disease ◽  
Novel Mutations

scholarly journals Genetic and Molecular Evaluation: Reporting Three Novel Mutations and Creating Awareness of Pycnodysostosis Disease

Genes ◽  
2021 ◽  
Vol 12 (10) ◽  
pp. 1552
Author(s):  
Khalda Sayed Amr ◽  
Hala T. El-Bassyouni ◽  
Sawsan Abdel Hady ◽  
Mostafa I. Mostafa ◽  
Mennat I. Mehrez ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Tooth Development ◽  
Gene Mutations ◽  
Cathepsin K ◽  
Autosomal Recessive Disorder ◽  
Novel Mutations ◽  
Raising Awareness ◽  
Egyptian Patients ◽  
Molecular Evaluation

Pycnodysostosis is a rare autosomal recessive disorder with characteristic diagnostic manifestations. This study aims to phenotype and provide molecular characterization of Egyptian patients, with emphasis on identifying unusual phenotypes and raising awareness about pycnodysostosis with different presentations to avoid a mis- or under-diagnosis and consequent mismanagement. We report on 22 Egyptian pycnodysostosis patients, including 9 new participants, all descending from consanguineous families and their ages ranging from 6 to 15 years. In addition, prenatal diagnosis was performed in one family with affected siblings. They all presented with short stature, except for one patient who presented with pancytopenia as her primary complaint. Moreover, 41.2% of patients had sleep apnea, 14% presented with craniosynostosis, and 44.4% had failure of tooth development. Molecular analysis via direct exome sequencing of the cathepsin K gene revealed three novel mutations ((NM_000396.3) c.761_763delCCT, c.864_865delAA, and c.509G>T) as well as two previously reported mutations among nine new cases. The following is our conclusion: This study expands the molecular spectrum of pycnodysostosis by identifying three novel mutations and adds to the clinical and orodental aspects of the disease. The link between the CTSK gene mutations and the failure of tooth development has not been established, and further studies could help to improve our understanding of the molecular pathology.

Autosomal recessive osteopetrosis: report of 41 novel mutations in the TCIRG1 gene and diagnostic implications

2012 ◽  
Vol 23 (11) ◽  
pp. 2713-2718 ◽  
Author(s):  
A. Pangrazio ◽  
M. E. Caldana ◽  
N. L. Iacono ◽  
S. Mantero ◽  
P. Vezzoni ◽  
...  
Keyword(s):  
Autosomal Recessive ◽  
Novel Mutations ◽  
Autosomal Recessive Osteopetrosis
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