Document Details

Document Type : Article In Journal 
Document Title :
A newly described mutation of the CLCN7 gene causes neuropathic autosomal recessive osteopetrosis in an Arab family
A newly described mutation of the CLCN7 gene causes neuropathic autosomal recessive osteopetrosis in an Arab family
 
Subject : Genetics 
Document Language : English 
Abstract : Neurologic manifestations in osteopetrosis are usually secondary to sclerosis of the skull bones. However, a rare neuropathic subtype of osteopetrosis exists that resembles neurodegenerative storage disorders. Unlike other forms of osteopetrosis, this latter form does not respond to hematopoietic stem cell transplantation. Preliminary studies suggest that this neuropathic form is more likely to be caused by mutations in the CLCN7 gene in an autosomal recessive manner. This study provides further evidence for this phenotype-genotype correlation by presenting a previously unreported mutation in the CLCN7 gene in a Yemeni family with the neuropathic form. This is also the first study of any mutation in patients with osteopetrosis of Arabic ethnicity. As literature review suggests that this type may be more common in Arabs, cascade genetic screening of early onset of autosomal recessive-osteopetrosis in patients of Arabic ancestry may preferably start with the CLCN7 gene rather than the TCIRG gene as is routinely done in clinical laboratories. Identifying a mutation in the CLCN7 gene in a patient with early onset of autosomal recessive-osteopetrosis may also guide therapeutic decisions including the option of hematopoietic stem cell transplantation 
ISSN : 0962-8827 
Journal Name : Clinical Dysmorphology 
Volume : 21 
Issue Number : 1 
Publishing Year : 1433 AH
2012 AD 
Article Type : Article 
Added Date : Sunday, October 30, 2011 

Researchers

Researcher Name (Arabic)Researcher Name (English)Researcher TypeDr GradeEmail
جمانة الأعمىAl-Aama, Jumana InvestigatorDoctorate 
آمال الدباغAl-Dabbagh, Amal ResearcherDoctorate 

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