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Basic and Clinical Neuroscience، جلد ۱۵، شماره ۴، صفحات ۰-۰
عنوان فارسی
چکیده فارسی مقاله
کلیدواژه‌های فارسی مقاله
عنوان انگلیسی Recurrence of Developmental and Epileptic Encephalopathy 9 (DEE9) in Two Siblings Due to Parental Germline Mosaicism of PCDH19 Mutation and Review of the Literature
چکیده انگلیسی مقاله
Introduction: Developmental and epileptic encephalopathy 9 (DEE9) is caused by pathogenic variants in the PCDH19 gene. The clinical features include early-onset seizures that are often provoked by fever and display clustered seizures, mild to profound intellectual disability, autistic traits, and behavioral disturbances. DEE9 is characterized by an unusual X-linked pattern where heterozygous females or rarely mosaic hemizygous males are affected, but hemizygous males and homozygous females are asymptomatic. In recent years, an increasing number of female and male patients with PCDH19-related epilepsy and symptoms have been reported.
Methods & Results: Here, we report two additional female patients with DEE9 who are siblings. Whole exome sequencing revealed that these patients have a heterozygous frameshift variant (NM_001184880.2: c.1091delC, p.P364Rfs*4) in the PCDH19 gene. We also reviewed previously reported cases with this mutation in detail.
Conclusion: This is the first report of germline mosaicism in the PCDH19 gene in the Iranian population and expanded the phenotypic spectrum of DEE9. Genetic testing has become an effective way of determining the diagnosis. Parental germline mosaicism should be considered when providing genetic counseling for X-linked/autosomal dominant disorders. This report also provides an emphasis on the importance of considering prenatal diagnosis (PND) in such cases.
 
کلیدواژه‌های انگلیسی مقاله Developmental and epileptic encephalopathy 9, Epilepsy, PCDH19, Genetic, Germline mosaicism
نویسندگان مقاله | Sahar Alijanpour
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.


| Soudeh Ghafouri-Fard
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.


| Seyed Hassan Tonekaboni
Professor of Pediatrics, Neuropediatrician, Pediatric Neurology Department, Mofid Children's Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.


| Parvaneh Karimzadeh
Professor of Pediatric Neurology, Pediatric Neurology Department, Mofid Children's Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.


| Farzad Ahmadabadi
Pediatric Neurology Department, Mofid Children's Hospital, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.


| Elham Rahimian
Haghighat Imaging and Research Center, Tehran, Iran.


| Samareh Panjehshahi
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.


| Mohammad Miryounesi
Department of Medical Genetics, Faculty of Medicine, Shahid Beheshti University of Medical Sciences, Tehran, Iran.
نشانی اینترنتی http://bcn.iums.ac.ir/browse.php?a_code=A-10-5507-1&slc_lang=en&sid=1
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کد مقاله (doi)
زبان مقاله منتشر شده en
موضوعات مقاله منتشر شده Cellular and molecular Neuroscience
نوع مقاله منتشر شده Original
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