Homozygous single base deletion inTUSC3causes intellectual disability with developmental delay in an Omani family-Reference-Cited by-同舟云学术

Homozygous single base deletion inTUSC3causes intellectual disability with developmental delay in an Omani family

Published:2016-05-05 Issue:7 Volume:170 Page:1826-1831
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am. J. Med. Genet.

Author:

Al-Amri Ahmed¹²³,Saegh Abeer Al⁴,Al-Mamari Watfa⁵,El-Asrag Mohammed E.¹⁶,Ivorra Jose L.¹²,Cardno Alastair G.⁷,Inglehearn Chris F.¹,Clapcote Steven J.²,Ali Manir¹

Affiliation:

1. Section of Ophthalmology and Neuroscience; Leeds Institute of Biomedical and Clinical Sciences; University of Leeds; United Kingdom

2. School of Biomedical Sciences; University of Leeds; United Kingdom

3. National Genetic Centre; Directorate General of Royal Hospital; Ministry of Health; Muscat Oman

4. Genetic and Developmental Medicine Clinic; Genetics Department; Sultan Qaboos University Hospital; Muscat Oman

5. Developmental Pediatric Unit; Child Health Department; Sultan Qaboos University Hospital; Muscat Oman

6. Department of Zoology; Faculty of Science; Benha University; Benha Egypt

7. Academic Unit of Psychiatry and Behavioural Sciences; Leeds Institute of Health Sciences; University of Leeds; United Kingdom

Funder

Oman Ministry of Higher Education

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

http://onlinelibrary.wiley.com/wol1/doi/10.1002/ajmg.a.37690/fullpdf

Reference22 articles.

1. Deletion mapping of chromosomes 8, 10, and 16 in human prostatic carcinoma;Bergerheim;Gene Chromosome Canc,1991

2. Homozygous truncating intragenic duplication in TUSC3 responsible for rare autosomal recessive nonsyndromic intellectual disability with no clinical or biochemical metabolic markers;El Chehadeh;JIMD Rep,2015

3. A defect in the TUSC3 gene is associated with autosomal recessive mental retardation;Garshasbi;Am J Hum Genet,2008

4. A novel nonsense mutation in TUSC3 is responsible for non-syndromic autosomal recessive mental retardation in a consanguineous Iranian family;Garshasbi;Am J Med Genet A,2011

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