SUMMARY:
Pathogenic PSAT1 variants can cause a mild phenotype, predominantly as autosomal recessive axonal Charcot-Marie-Tooth disease.
TITLE:
Pathogenic PSAT1 Variants and Autosomal Recessive Axonal Charcot-Marie-Tooth Disease With Ichthyosis
DESCRIPTION:
CONCLUSIONS: Our study confirms that pathogenic PSAT1 variants can cause a mild phenotype, predominantly as autosomal recessive axonal Charcot-Marie-Tooth disease.
CONTENT:
Pediatr Neurol. 2022 Nov 24;140:25-34. doi: 10.1016/j.pediatrneurol.2022.11.013. Online ahead of print.
ABSTRACT
BACKGROUND: Biallelic pathogenic phosphoserine aminotransferase 1 (PSAT1) variants generally cause a severe phenotype predominantly involving the central nervous system. Here, for the first time, we report two patients harboring pathogenic PSAT1 variants only manifested as polyneuropathy and ichthyosis.
METHODS: Two patients from unrelated families presenting with polyneuropathy and ichthyosis were enrolled. Whole exome sequencing was performed to identify possible disease-causing variants. Their clinical, electrophysiological, imaging, biochemical, and pathologic changes were in detail assessed and investigated.
RESULTS: Homozygous variant c.43G>C and compound heterozygous variants c.112A>C and c.43G>C in PSAT1 were identified in patients 1 and 2, respectively. Nerve conduction studies revealed preserved or mild slowing motor nerve conduction velocities of the median nerves in the two patients, whereas the compound motor action potential in patient 1 was severely decreased. Brain magnetic resonance imaging of the two patients found no abnormalities. Median nerve enlargement was observed on ultrasound in patient 1. Both patients had normal level of serine and glycine in plasma and cerebrospinal fluid. Sural nerve biopsy found severe loss of myelinated fibers. Electron microscopy revealed neurofilament accumulation and mitochondrial aggregation in axons. Both variants in PSAT1 were classified as likely pathogenic or pathogenic variants according to the standard guidelines.
CONCLUSIONS: Our study confirms that pathogenic PSAT1 variants can cause a mild phenotype, predominantly as autosomal recessive axonal Charcot-Marie-Tooth disease.
PMID:36599231 | DOI:10.1016/j.pediatrneurol.2022.11.013
SOURCE:
Pediatric neurology
TAGS:
PSAT1
CATEGORY:
Research
SUBCATEGORY:
n/a
DATE – PUBLISHED:
2022-11-24T18:25:49Z
DATE – DOI: 2022-11-24T18:25:49Z
DATE – PUBMED: 2022 Nov 24
DATE OUTPUT MATCHED: True
DATE – ADDED:
Wed, 04 Jan 2023 06:00:00 -0500
DATE – RETRIEVED:
01/05/23 01:01AM
2023-01-05T01:01:48-05:00
FEATURED IMAGE:
Media Uploaded (image/png)
IDENTIFIER:
pmid:36599231,doi:10.1016/j.pediatrneurol.2022.11.013
PUBMED ID:
pubmed:36599231
DOI:
10.1016/j.pediatrneurol.2022.11.013
LINK – PUBMED:
https://pubmed.ncbi.nlm.nih.gov/36599231/
LINK – DOI:
https://doi.org/10.1016/j.pediatrneurol.2022.11.013
LINK – PUBLISHER:
https://linkinghub.elsevier.com/retrieve/pii/S0887899422002454
REFERENCES:
CMT Treatment Report, Urgent Research, 2023-01-05T01:01:48-05:00, https://www.cmttreatmentreport.com.