Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V
Distal hereditary motor neuropathies (dHMN) are a rare heterogeneous group of inherited disorders specifically affecting the motor axons, leading to distal limb neurogenic muscular atrophy. The GARS gene has been identified as a causative gene responsible for clinical features of dHMN type V in fami...
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| Main Authors: | , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2018-01-01
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| Series: | Case Reports in Pediatrics |
| Online Access: | http://dx.doi.org/10.1155/2018/8516285 |
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| _version_ | 1832545520113942528 |
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| author | Peter Chung Hope Northrup Misbah Azmath Ricardo A. Mosquera Shade Moody Aravind Yadav |
| author_facet | Peter Chung Hope Northrup Misbah Azmath Ricardo A. Mosquera Shade Moody Aravind Yadav |
| author_sort | Peter Chung |
| collection | DOAJ |
| description | Distal hereditary motor neuropathies (dHMN) are a rare heterogeneous group of inherited disorders specifically affecting the motor axons, leading to distal limb neurogenic muscular atrophy. The GARS gene has been identified as a causative gene responsible for clinical features of dHMN type V in families from different ethnic origins and backgrounds. We present the first cohort of family members of Nigerian descent with a novel heterozygous p.L272R variant on the GARS gene. We postulate that this variant is the cause of dHMN-V in this family, leading to variable phenotypical expressions that are earlier than reported in previous cases. The exact cause for the observed clinical heterogeneity within the family is unknown. One explanation is that there are modifier genes that affect the phenotype. These cases highlight the possibility of considering pathogenic variants in the GARS gene as a potential cause of early onset axonal polyneuropathy with atypical presentation. |
| format | Article |
| id | doaj-art-89b443fc6e14497f93217153971123dd |
| institution | Kabale University |
| issn | 2090-6803 2090-6811 |
| language | English |
| publishDate | 2018-01-01 |
| publisher | Wiley |
| record_format | Article |
| series | Case Reports in Pediatrics |
| spelling | doaj-art-89b443fc6e14497f93217153971123dd2025-02-03T07:25:34ZengWileyCase Reports in Pediatrics2090-68032090-68112018-01-01201810.1155/2018/85162858516285Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy VPeter Chung0Hope Northrup1Misbah Azmath2Ricardo A. Mosquera3Shade Moody4Aravind Yadav5Children’s Memorial Hermann Hospital, Houston, TX, USAChildren’s Memorial Hermann Hospital, Houston, TX, USAChildren’s Memorial Hermann Hospital, Houston, TX, USAChildren’s Memorial Hermann Hospital, Houston, TX, USAChildren’s Memorial Hermann Hospital, Houston, TX, USAChildren’s Memorial Hermann Hospital, Houston, TX, USADistal hereditary motor neuropathies (dHMN) are a rare heterogeneous group of inherited disorders specifically affecting the motor axons, leading to distal limb neurogenic muscular atrophy. The GARS gene has been identified as a causative gene responsible for clinical features of dHMN type V in families from different ethnic origins and backgrounds. We present the first cohort of family members of Nigerian descent with a novel heterozygous p.L272R variant on the GARS gene. We postulate that this variant is the cause of dHMN-V in this family, leading to variable phenotypical expressions that are earlier than reported in previous cases. The exact cause for the observed clinical heterogeneity within the family is unknown. One explanation is that there are modifier genes that affect the phenotype. These cases highlight the possibility of considering pathogenic variants in the GARS gene as a potential cause of early onset axonal polyneuropathy with atypical presentation.http://dx.doi.org/10.1155/2018/8516285 |
| spellingShingle | Peter Chung Hope Northrup Misbah Azmath Ricardo A. Mosquera Shade Moody Aravind Yadav Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V Case Reports in Pediatrics |
| title | Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V |
| title_full | Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V |
| title_fullStr | Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V |
| title_full_unstemmed | Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V |
| title_short | Glycyl tRNA Synthetase (GARS) Gene Variant Causes Distal Hereditary Motor Neuropathy V |
| title_sort | glycyl trna synthetase gars gene variant causes distal hereditary motor neuropathy v |
| url | http://dx.doi.org/10.1155/2018/8516285 |
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