Phelan–McDermid Syndrome: Expanding the Phenotype
El-Bassyouni, H., Eid, O., Ismail, S., El-Ruby, M., Ashaat, E., Mahrous, R., Hussein, S., Kamel, A., Zaki, M., Hamed, K., Soliman, D., Mohamed, R., Mohamed, A. (2022). Phelan–McDermid Syndrome: Expanding the Phenotype. EKB Journal Management System, 11(2), 46-53. doi: 10.21608/MXE.2023.287525
Hala T. El-Bassyouni; Ola M. Eid; Samira Ismail; Mona O. El-Ruby; Engy A. Ashaat; Rana Mahrous; Shymaa H. Hussein; Alaa K. Kamel; Maha S. Zaki; Khaled Hamed; Doaa R. Soliman; Ramy Mohamed; Amal M. Mohamed. "Phelan–McDermid Syndrome: Expanding the Phenotype". EKB Journal Management System, 11, 2, 2022, 46-53. doi: 10.21608/MXE.2023.287525
El-Bassyouni, H., Eid, O., Ismail, S., El-Ruby, M., Ashaat, E., Mahrous, R., Hussein, S., Kamel, A., Zaki, M., Hamed, K., Soliman, D., Mohamed, R., Mohamed, A. (2022). 'Phelan–McDermid Syndrome: Expanding the Phenotype', EKB Journal Management System, 11(2), pp. 46-53. doi: 10.21608/MXE.2023.287525
El-Bassyouni, H., Eid, O., Ismail, S., El-Ruby, M., Ashaat, E., Mahrous, R., Hussein, S., Kamel, A., Zaki, M., Hamed, K., Soliman, D., Mohamed, R., Mohamed, A. Phelan–McDermid Syndrome: Expanding the Phenotype. EKB Journal Management System, 2022; 11(2): 46-53. doi: 10.21608/MXE.2023.287525

Phelan–McDermid Syndrome: Expanding the Phenotype

Middle East Journal of Medical Genetics
Volume 11, Issue 2, July 2022, Page 46-53  XML PDF (538.33 K)
Document Type: Original Article
DOI: 10.21608/MXE.2023.287525
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Authors
Hala T. El-Bassyouniorcid 1; Ola M. Eid2; Samira Ismail1; Mona O. El-Ruby1; Engy A. Ashaat1; Rana Mahrous2; Shymaa H. Hussein2; Alaa K. Kamel2; Maha S. Zaki1; Khaled Hamed1; Doaa R. Soliman3; Ramy Mohamed4; Amal M. Mohamed2
1Department of Clinical Genetics, National Research Centre, Egypt.
2Department of Human Cytogenetics, National Research Centre, Egypt.
3Department of Pediatrics, Faculty of Medicine, Benha University, Benha, Egypt.
4Department of Biological Anthropology, National Research Centre, Egypt.
Abstract
Background: Phelan-McDermid syndrome (PMS) is a rare neurodevelopmental disorder recognized by developmental delay, mild dysmorphisms, autism spectrum disorder (ASD), and intellectual disability (ID). Objectives: The aim of this work was to describe an Egyptian cohort of PMS patients and investigate the phenotype-genotype correlation. Patients and Methods: Four patients with dysmorphic features, delayed milestones and autistic behavior were subjected to clinical examination, karyotyping, Fluorescence In Situ Hybridization (FISH), Multiplex ligation dependent probe amplification (MLPA) Chromosomal microarray (CMA) analysis. Results: One patient presented with microcephaly. Echocardiography showed patent foramen ovale (PFO) and bilateral abnormal superior vena cava (SVC) in one patient. MRI revealed vermal hypoplasia and kinked corpus callosum in one patient and cerebral atrophy in another patient. All patients disclosed ID, while autistic behavior was noted in 3 patients. Karyotype detected no abnormality in 3 patients, while the fourth revealed ring chromosome 22. MLPA identified heterozygous deletion at 22q13 in 2 patients. FISH and CMA detected heterozygous deletion at 22q13 in one patient. Relation between patient’s results and types of graft used showed no statistically significant differences between them. Conclusion: Our study highlighted the occurrence of ASD in individuals with PMS due to SHANK3 deletion, though, some individuals could compensate for such deletions. This report expanded the PMS phenotype and described some anomalies that to the best of our knowledge have not been previously described.
Keywords
CMA; 22q13 Deletion; FISH; MLPA; Phelan-McDermid syndrome; SHANK3 gene
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