| Autor: |
Mary Maj, Christie L. Taylor, Kevin Landau, Helga V. Toriello, Dong Li, Elizabeth J. Bhoj, Hakon Hakonarson, Beverly Nelson, Sarah Gluschitz, Ruth H. Walker, Andrew K. Sobering |
| Rok vydání: |
2022 |
| Předmět: |
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| Zdroj: |
Molecular Genetics & Genomic Medicine. 11 |
| ISSN: |
2324-9269 |
| DOI: |
10.1002/mgg3.2064 |
| Popis: |
SYNJ1 encodes Synaptojanin-1, a dual-function poly-phosphoinositide phosphatase that is expressed in the brain to regulate neuronal synaptic vesicle dynamics. Biallelic SYNJ1 variants cause a spectrum of clinical manifestations, from early onset parkinsonism to developmental and epileptic encephalopathy.Proband-only exome sequencing was used to identify a homozygous SYNJ1 pathogenic variant in an individual with epileptic encephalopathy. Sanger sequencing was used to confirm the variant.We present an Afro-Caribbean female who developed uncontrollable seizures shortly after birth, accompanied by developmental delay and severe generalized dystonia. She had homozygosity for a novel c.242-2A G variant in SYNJ1 with both parents being heterozygous carriers. An older sister was reported to have had a similar presentation but was not examined. Both siblings died at an approximate age of 16 years.We report a novel pathogenic variant in SYNJ1 present in homozygosity leading to developmental and epileptic encephalopathy. Currently, there are only 4 reports describing 10 individuals with SYNJ1-related developmental and epileptic encephalopathy. This case expands the clinical knowledge and the allelic heterogeneity associated with SYNJ1 variants. |
| Databáze: |
OpenAIRE |
| Externí odkaz: |
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