Investigation of genetic causes of intellectual disability in kerman province, South East of Iran

المؤلفون المشاركون

Najmabadi, H.
Darvish, H.
Behjati, F.
Kahrizi, K.
Banavandi, M. J. Sultani
Muhseni, M.
Bahman, I.
Abedinni, S. Sedigheh
Fayruzabadi, S. Ghasemi
Jafari, E.
Ghadami, Sh.
Sabbagh, F.
Kavoosi, Gh. R.

المصدر

Iranian Red Crescent Medical Journal

العدد

المجلد 14، العدد 2 (28 فبراير/شباط 2012)، ص ص. 79-85، 7ص.

الناشر

المستشفى الإيراني

تاريخ النشر

2012-02-28

دولة النشر

الإمارات العربية المتحدة

عدد الصفحات

7

التخصصات الرئيسية

الطب البشري

الموضوعات

الملخص EN

Background: Intellectual disability (ID) has a worldwide prevalence of 1-3% and results from extraordinary heterogeneous.

To shed more light on the causes of ID in Kerman Province, in Southeast Iran, we set out in 2008 to perform systematic clinical studies and homozygosity mapping in large Iranian families with ID.

Methods: Fifty seven families with a minimum of two mentally retarded children from Kerman Province were initially tested for metabolic disorders, by Tandem mass spectrometry.

Fragile X testing and standard karyotyping were performed for all probands of families.

Cases with autosomal recessive (AR) pattern of inheritance and microcephaly were subjected to homozygosity mapping by using several microsatellite markers for known MCPH loci.

Results: Three out of seven families with X-linked pattern of inheritance were positive for fragile X syndrome.

Chromosome abnormality was not observed in any of dysmorphic patients and all families were negative for metabolic tests.

Among the remaining 50 families of AR ID, six were found to be microcephalic, of which 2 linked to two MCPH loci (33.3%).

The rest 4 families were not linked to any of the known loci.

Conclusion: The results of this study showed that ID with microcephaly comprised 12% of ID cases in Kerman Province.

In two families with apparent linkage to the MCPH5 and MCPH6 locus, mutation screening was not successful, which might indicate that either the mutation is located in the regulatory sequences of the gene or that there might be another genes present in these regions, which is mutated in such cases.

نمط استشهاد جمعية علماء النفس الأمريكية (APA)

Banavandi, M. J. Sultani& Kahrizi, K.& Behjati, F.& Muhseni, M.& Darvish, H.& Bahman, I.…[et al.]. 2012. Investigation of genetic causes of intellectual disability in kerman province, South East of Iran. Iranian Red Crescent Medical Journal،Vol. 14, no. 2, pp.79-85.
https://search.emarefa.net/detail/BIM-311785

نمط استشهاد الجمعية الأمريكية للغات الحديثة (MLA)

Banavandi, M. J. Sultani…[et al.]. Investigation of genetic causes of intellectual disability in kerman province, South East of Iran. Iranian Red Crescent Medical Journal Vol. 14, no. 2 (Feb. 2012), pp.79-85.
https://search.emarefa.net/detail/BIM-311785

نمط استشهاد الجمعية الطبية الأمريكية (AMA)

Banavandi, M. J. Sultani& Kahrizi, K.& Behjati, F.& Muhseni, M.& Darvish, H.& Bahman, I.…[et al.]. Investigation of genetic causes of intellectual disability in kerman province, South East of Iran. Iranian Red Crescent Medical Journal. 2012. Vol. 14, no. 2, pp.79-85.
https://search.emarefa.net/detail/BIM-311785

نوع البيانات

مقالات

لغة النص

الإنجليزية

الملاحظات

Includes bibliographical references : p. 83-85

رقم السجل

BIM-311785