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Basic and Clinical Neuroscience، جلد ۱۶، شماره ۲، صفحات ۰-۰
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| عنوان فارسی |
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| چکیده فارسی مقاله |
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| عنوان انگلیسی |
Expanding the Phenotype and Genotype Spectrum of a Novel Mutation in Hypomyelinating Leukodystrophie-5 with a Review of the Literature on 42 Cases |
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| چکیده انگلیسی مقاله |
Background: Hypomyelinating leukodystrophie-5 (HLD-5) is a rare multiple congenital anomaly with intellectual disability caused by an autosomal recessive mutation in the FAM126A gene and is characterized by bilateral congenital cataract, developmental delay, cerebellar ataxia, slowly progressive gait disturbance and cognitive impairment. This study aims to contribute to a better understanding of HLD-5 by reviewing previous patients and introducing a novel variant in a new case.
Methods and Results: We subjected a case with an initial diagnosis of HLD-5 in an Iranian family. To identify the possible genetic cause(s), whole exome sequencing (WES) was carried out to detect exon mutations and Sanger sequencing was performed to verify the DNA sequence variants and co-segregation analysis. We predicted the potential deleterious effects of the novel mutation using in silico predictive tools. WES identified a novel homozygous mutation (NM_032581: c.636_639del p.C213Dfs*7) in the FAM126A gene. The variant can cause premature termination of amino acid translation or affect mRNA expression.
Conclusions: In this study, the clinical manifestations and molecular findings of HLD-5 were explained. Additionally, we reported a novel variant and some rare clinical features, such as exophthalmos and strabismus, in our proband for the first time. Further research is needed to clarify the molecular mechanisms underlying HLD-5 pathogenesis. |
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| کلیدواژه‌های انگلیسی مقاله |
Hypomyelinating leukodystrophie-5, FAM126A, DRCTNNB1A, HYCC1, Whole exome sequencing |
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| نویسندگان مقاله |
| Sahar Bayat
Department of Genetics and Molecular Biology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
| Milad Gholami
Department of Biochemistry and Genetics, School of Medicine, Arak University of Medical Sciences, Arāk, Iran.
| Hamidreza Khodadadi
Department of Biotechnology, School of Medicine, Lorestan University of Medical Sciences, Lorestan, Iran
| Mohammadreza Ghazavi
Department of Pediatric Neurology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
| Jafar Nasiri
Department of Pediatric Neurology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran
| Majid Kheirollahi
Department of Genetics and Molecular Biology, Faculty of Medicine, Isfahan University of Medical Sciences, Isfahan, Iran.
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| نشانی اینترنتی |
http://bcn.iums.ac.ir/browse.php?a_code=A-10-6930-1&slc_lang=en&sid=1 |
| فایل مقاله |
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| کد مقاله (doi) |
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| زبان مقاله منتشر شده |
en |
| موضوعات مقاله منتشر شده |
Cellular and molecular Neuroscience |
| نوع مقاله منتشر شده |
Original |
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