Case Report
Volume: 1 | Issue: 2 | Published: Jun 19, 2018 | Pages: 93 - 97 | DOI: 10.24911/JBCGenetics/183-1532358706
A new case of de novo chromosome 19p13.12 deletion in an Omani girl with multiple congenital anomalies: a first case report from Oman
Authors: Musallam Said Al-Araimi , Aliya Mahmood Al-Hosni , Ali Ahmed Al-Yahmadi , Salma Mohammed Al-Harasi
Article Info
Authors
Musallam Said Al-Araimi
Clinical Geneticist, MD,PhD, Head of The Genetic Counselling & Education Department, The National Genetics Center, Royal Hospital Muscat, Oman
Aliya Mahmood Al-Hosni
Senior Laboratory Scientist, PhD, Molecular Genetics, The National Genetics Center, Royal Hospital Muscat, Oman
Ali Ahmed Al-Yahmadi
Laboratory Technician, BSc, Molecular Cyto-Genetics, The National Genetics Center, Royal Hospital Muscat, Oman
Salma Mohammed Al-Harasi
Head of Genetic Lab, PhD, Molecular Cyto-Genetics, The National Genetics Center, Royal Hospital Muscat, Oman
Publication History
Received: July 23, 2018
Accepted: August 19, 2018
Published: June 19, 2018
Abstract
Background: This report provides a molecular cytogenetic characterization of an Omani girl with 19p13.12 microdeletion and compares her clinical features of global developmental delay (GDD) and multiple congenital anomalies with the gene mutations and disorders associated with this locus. Case Presentation: The 4-year-old Omani girl presented to the National Genetic Center with the following clinical features: GDD, hypotonia, multiple congenital anomalies, facial dysmorphism, and skeletal anomalies. Array comparative genomic hybridization (CGH) identified a 1.913 Mb de novo microdeletion in the patient within 19p13.12. The deletion includes 53 genes, of which 35 are Online Mendelian Inheritance in Man (OMIM) genes. The deleted region includes NFIX (OMIM #164005), CACNA1A (OMIM # 601011) and NACC1 (OMIM # 610672) genes which are previously reported to be associated with the presented clinical features. Conclusion: 19p13.12 microdeletion syndrome is a rare condition for which only one prenatal and 5 postnatal cases have been reported previously. This case of 19p13.12 microdeletion syndrome is the first case to be reported in Oman as well as in the Gulf Cooperation Council countries (GCC) and in the Middle East and North Africa (MENA).
Keywords: Comparative genomic hybridization, 19p13.12 deletion, dysmorphism
