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Amal M Mohamed
National Research Centre, Egypt
ScientificTracks Abstracts: J Reprod Biol Endocrinol
Autism Spectrum Disorder (ASD) are neurodegenerative disorders with a prevalence rate of 1%. ASD are extremely heritable (90%), genetic factors are the major cause of ASD. The aim of this study is to detect CNV at the level of the whole genome using the array CGH (Affymetrix) and evaluate if it is a pathological or benign, and according to the findings we selected and designed some genetic markers that can be used in diagnosis. Forty families who have one or two affected sibs with ASD were the subject of this study. This is the 1st time in Egypt to study the CNV at the level of the whole genome in ASD patients. We could report CNV in 40% of our ASD patients. The most recurrent CNV was found to involved chromosome 15q11q13 and 16p11.2. We reported one patient with deletion in 15q11, two patients with both del 15q11/dup15q13, one patient with duplication 15q13 and one patient with 4 copies of the entire 15q11q13. The del/dup 16p11.2 regions were reported in 12 of our patients, both 15q13 and 16p11.2 CNV were present in 2 patients. We have an identical twin, and both had deletion in 6p25.3, in another dizygotic twin both had 16p11.2 duplication. We reported one patient with deletion of both copies in 4q13.3. The study of the parental inheritance of these copy number variances are under investigation we selected the corresponding STS markers to diagnose if these variants are inherited or de novo, we designed some FISH probes to be used as screening for the most common variants. Conclusion: CNV by array CGH is the 1st Tier in ASD. The origin of parental inheritance is important for genetic counseling. Recent publications 1. El-Kamah, Ghada; Mohamed, Amal; Gad, Yehia; Abdelhak, Sonia; Hennig, Branwen; Ramesar, Raj; Landoure, Guida; Gaye, Amadou; Newport, Melanie; Williams, Scott; Ramsay, Michèle. Developing a roadmap to spread genomic knowledge in Africa. Meeting Report: 10th Conference of the African Society of Human Genetics, Cairo, Egypt. American Journal of Tropical Medicine and Hygiene Volume 102, Issue 4, April 2020. 2. Maha Eid, Ola Eid, Ibrahim Hegazy, Marian Girgis, Amal Mohamed, Ghada M.H. Abdel-Salam. Further Insights into Developmental Brain Malformations and Leukoencephalopathy Associated with 6p25.3 Deletion. Neuropediartics 2020. 3. Mohamed AM, Eid MM, Eid OM, Hussein SH, Mossaad AM, Abdelfattah U, Sharafuddin MA, El Halafawy YM, Elbanoby TM, Abdel- Salam GMH. Two Abnormal Cell Lines of Trisomy 14 and t(X;14) with Skewed X-Inactivation. Cytogenet Genome ,2020.
Amal M. Mohamed, Professor of Human genetics, Human genetics & Genome Research Institute, National Research Centre (NRC). Graduated at the Faculty of Medicine, with distinction 1977. MSc. In clinical pathology, PhD in Human Genetics. Major research interests are diagnosis and research for genetic causes of intellectual disability/multiple congenital anomalies, autism(ASD), retinoblastoma. Participated in establishment of Human Genetics and Genome Research division (now institute). Head of the division from 2003 to 2009, head of Cytogenetics Department 2009 to 2012. Currently the Head of Cytogenetic Team in STDF project for Centre of Scientific Excellence of Human Genetics. Director of the microarray laboratory. Deputy Editor of the Middle East Journal of Medical Genetics (MEJMG). Head of the conference board of the 10th Conference of African Society of Human Genetics,16-18 November 2017, Cairo, Egypt. President of the National Society of Human Genetics, Egypt. Member in the Scientific Board of the Egyptian Genome Project.
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