Identification of LINS1 gene variant in a patient with severe mental retardation / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
;
(6): 57-59, 2020.
Article
in Chinese
| WPRIM
| ID: wpr-781294
ABSTRACT
OBJECTIVE@#To explore the genetic basis of a child with idiopathic mental retardation.@*METHODS@#Clinical data and peripheral blood sample of the child were collected. Genomic DNA was extracted and subjected to copy number analysis using single nucleotide polymrophism array comparative genome hybridization (SNP-aCGH) and targeted capture and next generation sequencing (NGS).@*RESULTS@#No microdeletion/microduplication were detected by SNP-aCGH. NGS has detected homozygous c.722delA (p.Asp241fs) variant of the LISN1 gene, which is known to underlie autosomal recessive mental retardation-27 (MRT 27). Both parents are carriers of the variant, conforming to the autosomal recessive inheritance.@*CONCLUSION@#A novel pathogenic variant of the LINS1 gene has been identified, which probably underlies the MRT 27 in the patient.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Proteins
/
Comparative Genomic Hybridization
/
High-Throughput Nucleotide Sequencing
/
Genetics
/
Homozygote
/
Intellectual Disability
Type of study:
Diagnostic study
/
Prognostic study
Limits:
Child
/
Humans
Language:
Chinese
Journal:
Chinese Journal of Medical Genetics
Year:
2020
Type:
Article
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