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A Novel MACF1 Gene Mutation: Expanding the Fetal and Neonatal Phenotype.
Pediatr Neurol
January 2025
Division of Neurology & Pediatrics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania; Division of Neurology, Perelman School of Medicine at the University of Pennsylvania, Philadelphia, Pennsylvania.
Two-Compound Heterozygous Deletions Affecting in a Patient with Microcephaly and Ocular Abnormalities and in an Unborn Sibling with Abnormal Sulcation.
Mol Syndromol
December 2024
Institute of Medical Genetics and Genomics Ganga Ram Institute of Post Graduate Medical Education and Research Sir Ganga Ram Hospital, New Delhi, India.
Article Synopsis
- The disorder discussed leads to autosomal recessive microcephaly and chorioretinopathy, recently identified as a syndrome due to distinct eye-related symptoms and overlapping features like short stature and microcephaly.
- A case study details the first Indian family displaying this disorder, where an affected child and fetal sibling shown to have microcephaly and brain abnormalities underwent extensive genomic testing confirming their condition.
- The findings reveal novel genetic variants and underscore the complexity of diagnosis, emphasizing the importance of whole genome sequencing in rare conditions.
The Aggravation of Neuropsychiatric Symptoms in the Offspring of a Korean Family with Intellectual Disability and Developmental Delay Caused by a Novel p.Lys385Ter Variant.
Int J Mol Sci
September 2024
Research Institute of Clinical Medicine of Jeonbuk National University-Biomedical Research Institute of Jeonbuk National University Hospital, Jeonju 54907, Republic of Korea.
The mutations encompass a nearly continuous spectrum of neurodevelopmental disorders (NDDs), ranging from lissencephaly to Proud syndrome, as well as infantile spasms without brain malformations, and including both syndromic and non-syndromic intellectual disabilities (IDs). We describe worsening neuropsychiatric symptoms in the offspring of a Korean family with ID/developmental delay (DD) caused by a novel p.Lys385Ter variant.
View Article and Find Full Text PDFCharacterization of the Epileptogenic Phenotype and Response to Antiseizure Medications in Lissencephaly Patients.
Neuropediatrics
December 2024
University Children's Hospital Regensburg (KUNO), Hospital St. Hedwig of the Order of St. John, University of Regensburg, Regensburg, Germany.
Background: Patients with lissencephaly typically present with severe psychomotor retardation and drug-resistant seizures. The aim of this study was to characterize the epileptic phenotype in a genotypically and radiologically well-defined patient cohort and to evaluate the response to antiseizure medication (ASM). Therefore, we retrospectively evaluated 47 patients of five genetic forms (, , , , ) using family questionnaires, standardized neuropediatric assessments, and patients' medical reports.
View Article and Find Full Text PDFExploring unsolved cases of lissencephaly spectrum: integrating exome and genome sequencing for higher diagnostic yield.
J Hum Genet
December 2024
Department of Biochemistry, Hamamatsu University School of Medicine, Hamamatsu, Japan.
Lissencephaly is a rare brain malformation characterized by abnormal neuronal migration during cortical development. In this study, we performed a comprehensive genetic analysis using next-generation sequencing in 12 unsolved Japanese lissencephaly patients, in whom PAFAH1B1, DCX, TUBA1A, and ARX variants were excluded using the Sanger method. Exome sequencing (ES) was conducted on these 12 patients, identifying pathogenic variants in CEP85L, DYNC1H1, LAMC3, and DCX in four patients.
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