Genetic analysis of a Chinese pedigree with Lesch-Nyhan syndrome / 中华医学遗传学杂志
Chinese Journal of Medical Genetics
; (6): 723-726, 2023.
Article
em Zh
| WPRIM
| ID: wpr-981815
Biblioteca responsável:
WPRO
ABSTRACT
OBJECTIVE@#To explore the genetic etiology for a Chinese pedigree affected with Lesch-Nyhan syndrome.@*METHODS@#Members of the pedigree who had visited the Genetic Counseling Clinic of Linyi People's Hospital on February 10, 2022 were selected as the study subjects. Clinical data and family history of the proband were collected, and trio-whole exome sequencing (trio-WES) was carried out for the proband and his parents. Candidate variants were verified by Sanger sequencing.@*RESULTS@#Trio-WES revealed that both the proband and his cousin brother had harbored a hemizygous c.385-1G>C variant in intron 4 of the HPRT1 gene, which was unreported previously. A heterozygous c.385-1G>C variant of the HPRT1 gene was also found in the proband's mother, grandmother, two aunts, and a female cousin, whilst all phenotypically normal males in his pedigree were found to have a wild type for the locus, which has conformed to an X-linked recessive inheritance.@*CONCLUSION@#The heterozygous c.385-1G>C variant of the HPRT1 gene probably underlay the Lesch-Nyhan syndrome in this pedigree.
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Base de dados:
WPRIM
Assunto principal:
Linhagem
/
Íntrons
/
População do Leste Asiático
/
Heterozigoto
/
Síndrome de Lesch-Nyhan
/
Mutação
Limite:
Female
/
Humans
/
Male
Idioma:
Zh
Revista:
Chinese Journal of Medical Genetics
Ano de publicação:
2023
Tipo de documento:
Article