[Clinical phenotype and genetic characteristics of a Chinese pedigree affected with Spastic paraplegia type 5A].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
; 41(4): 437-442, 2024 Apr 10.
Article
in Zh
| MEDLINE
| ID: mdl-38565509
ABSTRACT
OBJECTIVE:
To explore the clinical phenotype and genetic characteristics of a Chinese pedigree affected with Spastic paraplegia type 5A (SPG5A).METHODS:
A pedigree suspected for Hereditary spastic paraplegia (HSP) at Henan Children's Hospital on August 15 2022 was selected as the study subject. Clinical data of the pedigree was collected. Peripheral blood samples were collected from members of the pedigree. Following extraction of genomic DNA, trio-WGS was carried out, and candidate variant was verified by Sanger sequencing.RESULTS:
The child, a 1-year-old boy, had presented with microcephaly, hairy face and dorsal side of distal extremities and trunk, intellectual and motor development delay, increased muscle tone of lower limbs, hyperreflexes of bilateral knee tendons, and positive pathological signs. His parents and sister both had normal phenotypes. Trio-WGS revealed that the child has harbored a homozygous c.1250G>A (p.Arg417His) variant of the CYP7B1 gene, for which his mother was heterozygous, the father and sister were of the wild type. The variant was determined to have originated from maternal uniparental disomy (UPD). The result of Sanger sequencing was in keeping with the that of trio-WGS. SPG5A due to maternal UPD of chromosome 8 was unreported previously.CONCLUSION:
The child was diagnosed with SPG5A, a complex type of HSP, for which the homozygous c.1250G>A variant of the CYP7B1 gene derived from maternal UPD may be accountable.
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Spastic Paraplegia, Hereditary
Limits:
Humans
/
Infant
/
Male
Country/Region as subject:
Asia
Language:
Zh
Journal:
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
Journal subject:
GENETICA MEDICA
Year:
2024
Document type:
Article
Affiliation country: