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Publication Details
AFRICAN RESEARCH NEXUS
SHINING A SPOTLIGHT ON AFRICAN RESEARCH
biochemistry, genetics and molecular biology
A homozygous contiguous gene deletion in chromosome 16p13.3 leads to autosomal recessive osteopetrosis in a Jordanian patient
Calcified Tissue International, Volume 91, No. 4, Year 2012
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Description
Human malignant autosomal recessive osteopetrosis (ARO) is a genetically heterogeneous disorder caused by reduced bone resorption by osteoclasts. Mutations in the CLCN7 gene are responsible not only for a substantial portion of ARO patients but also for other forms of osteopetrosis characterized by different severity and inheritance. The lack of a clear genotype/phenotype correlation makes genetic counseling a tricky issue for CLCN7-dependent osteopetrosis. Here, we characterize the first homozygous interstitial deletion in 16p13.3, detected by array comparative genomic hybridization in an ARO patient of Jordanian origin. The deletion involved other genes besides CLCN7, while the proband displayed a classic ARO phenotype; however, her early death did not allow more extensive clinical investigations. The identification of this novel genomic deletion involving a large part of the CLCN7 gene is of clinical relevance, especially in prenatal diagnosis, and suggests the possibility that this kind of mutation has been underestimated so far. These data highlight the need for alternative approaches to genetic analysis also in other ARO-causative genes. © Springer Science+Business Media, LLC 2012.
Authors & Co-Authors
Pangrazio, Alessandra
Italy, Rome
Consiglio Nazionale Delle Ricerche
Italy, Rozzano
Humanitas Research Hospital
Frattini, Annalisa
Italy, Rome
Consiglio Nazionale Delle Ricerche
Italy, Varese
Università Degli Studi Dell'insubria
Valli, Roberto
Italy, Varese
Università Degli Studi Dell'insubria
Maserati, Emanuela
Italy, Varese
Università Degli Studi Dell'insubria
Susani, Lucia
Italy, Rome
Consiglio Nazionale Delle Ricerche
Italy, Rozzano
Humanitas Research Hospital
Vezzoni, Paolo
Italy, Rome
Consiglio Nazionale Delle Ricerche
Italy, Rozzano
Humanitas Research Hospital
Villa, Anna
Italy, Rome
Consiglio Nazionale Delle Ricerche
Italy, Rozzano
Humanitas Research Hospital
Al-Herz, Waleed
Kuwait, Kuwait City
Kuwait University
Kuwait
Al-sabah Hospital
Sobacchi, Cristina
Italy, Rome
Consiglio Nazionale Delle Ricerche
Italy, Rozzano
Humanitas Research Hospital
Statistics
Citations: 9
Authors: 9
Affiliations: 5
Identifiers
Doi:
10.1007/s00223-012-9631-4
ISSN:
0171967X
e-ISSN:
14320827
Research Areas
Cancer
Genetics And Genomics
Health System And Policy
Maternal And Child Health