Molecular characterization of X chromosome fragility in idiopathic mental retardation
Joint Authors
Kamal, Tariq M.
Umar, Hibah Ala Husni
Salim, M. S. Z.
Abd al-Khaliq, Hibah Salah
al-Nadi, Ghadah H.
Source
The Egyptian Journal of Medical Human Genetics
Issue
Vol. 17, Issue 2 (30 Apr. 2016), pp.165-172, 8 p.
Publisher
Egyptian Society of Human Genetics
Publication Date
2016-04-30
Country of Publication
Egypt
No. of Pages
8
Main Subjects
Abstract EN
Background: Fragile X syndrome (FXS) is the most common form of inherited mental retardation.
Frequency of fragile X syndrome among male siblings and relatives of mentally retarded patients is relatively high.
Cytogenetic diagnosis of FXS is unreliable since it is ineffective for the diagnosis of premutated males or females.
Proper molecular diagnosis is a pre-requisite for providing proper counseling advice.
Subjects and methods: Sixty-four males with idiopathic mental retardation, ranging in age from 4.2 to 19 years (10.92± 4.00) were clinically pre-selected, based on scoring protocol comprising eight features of the syndrome, before molecular testing.
A rapid polymerase chain reactionbased screening was applied for detection of expanded FMR1 alleles.
Samples that did not yield the normal band lengths were subjected to a second PCR screen.
The secondary screen utilizes a chimeric primer demonstrating the presence or absence of an expanded allele.
Results: Amplification of FMRI gene by PCR of tested patients revealed that 8 cases (12.5%) have full mutation and 6 cases (9.4%) have premutation.
A wide range of Fra X-scoring ranging from 1 to 7 features was detected in examined cases.
Significant clinical features included large prominent ears, hyperextensibility of joints and macroorchidism in post pubertal males.
Conclusions: A simplified checklist of fragile X should be used for patients with idiopathic MR and those patients above score 3 should be tested for FXS.
The diagnostic assay may be used as a screening method for fragile X syndrome being rapid and cost effective compared to other techniques.
In addition, screening of all relatives of proven patients should be performed to detect clinically unidentified cases for provision of proper counseling and optimal management of detected cases.
2015 The Authors.
Production and hosting by Elsevier B.V.
on behalf of Ain Shams University.
This is an open access article under theCCBY-NC-NDlicense
American Psychological Association (APA)
Umar, Hibah Ala Husni& Kamal, Tariq M.& Abd al-Khaliq, Hibah Salah& al-Nadi, Ghadah H.& Salim, M. S. Z.. 2016. Molecular characterization of X chromosome fragility in idiopathic mental retardation. The Egyptian Journal of Medical Human Genetics،Vol. 17, no. 2, pp.165-172.
https://search.emarefa.net/detail/BIM-679362
Modern Language Association (MLA)
Umar, Hibah Ala Husni…[et al.]. Molecular characterization of X chromosome fragility in idiopathic mental retardation. The Egyptian Journal of Medical Human Genetics Vol. 17, no. 2 (Apr. 2016), pp.165-172.
https://search.emarefa.net/detail/BIM-679362
American Medical Association (AMA)
Umar, Hibah Ala Husni& Kamal, Tariq M.& Abd al-Khaliq, Hibah Salah& al-Nadi, Ghadah H.& Salim, M. S. Z.. Molecular characterization of X chromosome fragility in idiopathic mental retardation. The Egyptian Journal of Medical Human Genetics. 2016. Vol. 17, no. 2, pp.165-172.
https://search.emarefa.net/detail/BIM-679362
Data Type
Journal Articles
Language
English
Notes
Includes bibliographical references : p. 170-172
Record ID
BIM-679362