Investigation Genetic Causes Of Hereditary Intellectual Disability in Ahvaz (2011-2012)
Objective: Intellectual Disability (ID) characterize by significant limitations both in intellectual functioning and in adaptative behavior, originates before the age of 18. Over 70% of severe to profound intellectual disabilities (ID) caused by genetic factors. The aim of this study was to investig...
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| Format: | Article |
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University of Social Welfare and Rehabilitation Sciences
2013-10-01
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| Series: | Journal of Rehabilitation |
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| Online Access: | http://rehabilitationj.uswr.ac.ir/browse.php?a_code=A-11-1112-1&slc_lang=en&sid=1 |
| _version_ | 1818175363673489408 |
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| author | Saeedeh Akbari-Mobarakeh Elinaz Akbari-Azar Mohammad Reza Ebrahimpour Hossein Najm-Abadi Kimia Kahrizi |
| author_facet | Saeedeh Akbari-Mobarakeh Elinaz Akbari-Azar Mohammad Reza Ebrahimpour Hossein Najm-Abadi Kimia Kahrizi |
| author_sort | Saeedeh Akbari-Mobarakeh |
| collection | DOAJ |
| description | Objective: Intellectual Disability (ID) characterize by significant limitations both in intellectual functioning and in adaptative behavior, originates before the age of 18. Over 70% of severe to profound intellectual disabilities (ID) caused by genetic factors. The aim of this study was to investigate genetic causes of ID in fourty Ahvazi families and provide information for genetic counseling, carrier detection, and prenatal diagnosis.
Materials & Methods: In collaboration with Welfare Organization of Khuzestan Province, a total of 183 ID families from Ahwaz were investigated from which 40 (62 male and 42 female) families whose ID had been confirmed by psychiatrist and had more than one affected individual were selected for molecular analysis. Blood samples were collected from all normal and affected individuals in each family on EDTA pre-coated tubes. Thorough clinical characterization, dysmorphism examinations, karyotype analysis were carried out for all of the patients.
Results: Three out of 40 (7.5%) families had full mutation of Fragile X syndrome. No chromosomal abnormalities were identified. Metabolic screening revealed none of families had metabolic disorder. None of three families with primary microcephaly showed linkage to any of the seven known MCPH loci.
Conclusion: The most common causes of ID in Ahvaz was Fragile X syndrome and Autosomal Reccesive Primary Microcephaly with the frequency of (7.5%). It seems that autosomal reccesive primary microcephaly is a relatively common heterogenous condition in Ahvaz. |
| first_indexed | 2024-12-11T19:59:07Z |
| format | Article |
| id | doaj.art-a88bfe8bbf6646f0a6f59f1905c47198 |
| institution | Directory Open Access Journal |
| issn | 1607-2960 1607-2960 |
| language | fas |
| last_indexed | 2024-12-11T19:59:07Z |
| publishDate | 2013-10-01 |
| publisher | University of Social Welfare and Rehabilitation Sciences |
| record_format | Article |
| series | Journal of Rehabilitation |
| spelling | doaj.art-a88bfe8bbf6646f0a6f59f1905c471982022-12-22T00:52:34ZfasUniversity of Social Welfare and Rehabilitation SciencesJournal of Rehabilitation1607-29601607-29602013-10-011432530Investigation Genetic Causes Of Hereditary Intellectual Disability in Ahvaz (2011-2012)Saeedeh Akbari-Mobarakeh0Elinaz Akbari-Azar1Mohammad Reza Ebrahimpour2Hossein Najm-Abadi3Kimia Kahrizi4 Rehabilitation University Rehabilitation University Professor in Genetics Research Center of University of Social Welfare & Rehabilitation Sciences, Tehran, Iran. Objective: Intellectual Disability (ID) characterize by significant limitations both in intellectual functioning and in adaptative behavior, originates before the age of 18. Over 70% of severe to profound intellectual disabilities (ID) caused by genetic factors. The aim of this study was to investigate genetic causes of ID in fourty Ahvazi families and provide information for genetic counseling, carrier detection, and prenatal diagnosis. Materials & Methods: In collaboration with Welfare Organization of Khuzestan Province, a total of 183 ID families from Ahwaz were investigated from which 40 (62 male and 42 female) families whose ID had been confirmed by psychiatrist and had more than one affected individual were selected for molecular analysis. Blood samples were collected from all normal and affected individuals in each family on EDTA pre-coated tubes. Thorough clinical characterization, dysmorphism examinations, karyotype analysis were carried out for all of the patients. Results: Three out of 40 (7.5%) families had full mutation of Fragile X syndrome. No chromosomal abnormalities were identified. Metabolic screening revealed none of families had metabolic disorder. None of three families with primary microcephaly showed linkage to any of the seven known MCPH loci. Conclusion: The most common causes of ID in Ahvaz was Fragile X syndrome and Autosomal Reccesive Primary Microcephaly with the frequency of (7.5%). It seems that autosomal reccesive primary microcephaly is a relatively common heterogenous condition in Ahvaz.http://rehabilitationj.uswr.ac.ir/browse.php?a_code=A-11-1112-1&slc_lang=en&sid=1Intellectual disabilities Microcephaly Homozygosity mapping |
| spellingShingle | Saeedeh Akbari-Mobarakeh Elinaz Akbari-Azar Mohammad Reza Ebrahimpour Hossein Najm-Abadi Kimia Kahrizi Investigation Genetic Causes Of Hereditary Intellectual Disability in Ahvaz (2011-2012) Journal of Rehabilitation Intellectual disabilities Microcephaly Homozygosity mapping |
| title | Investigation Genetic Causes Of Hereditary Intellectual Disability in Ahvaz (2011-2012) |
| title_full | Investigation Genetic Causes Of Hereditary Intellectual Disability in Ahvaz (2011-2012) |
| title_fullStr | Investigation Genetic Causes Of Hereditary Intellectual Disability in Ahvaz (2011-2012) |
| title_full_unstemmed | Investigation Genetic Causes Of Hereditary Intellectual Disability in Ahvaz (2011-2012) |
| title_short | Investigation Genetic Causes Of Hereditary Intellectual Disability in Ahvaz (2011-2012) |
| title_sort | investigation genetic causes of hereditary intellectual disability in ahvaz 2011 2012 |
| topic | Intellectual disabilities Microcephaly Homozygosity mapping |
| url | http://rehabilitationj.uswr.ac.ir/browse.php?a_code=A-11-1112-1&slc_lang=en&sid=1 |
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