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.
Subject(s)
Male , Humans , Female , Lesch-Nyhan Syndrome/genetics , Pedigree , East Asian People , Heterozygote , Introns , MutationABSTRACT
Objective To detect serum creatine kinase (CK) level in patients with mania ,and to explore the correlation between the change of CK level and the prognosis of the patients .Methods From January 2014 to December 2016 ,99 cases of mania (manic group) and 80 healthy volunteers (healthy group) who underwent the healthy assessment during the same period were enrolled in the study .Fasting venous blood were collected from two groups ,and the serum level of CK was determined .The manic group was treated with conventional medicine .The changes in the scores of bech-rafaelsen mania rating scale(BRMS) were observed at the time be-fore treatment and 2 ,4 and 6 weeks after treatment ,and the correlation between the serum CK level of mania patients and their prognosis was investigated by Spearman correlation analysis .Results The serum CK levels in the manic group before treatment and 2 ,4 and 6 weeks after treatment were significantly higher than those in the healthy group ,and the differences were statistically significant (P＜ 0 .05) ,while the serum CK level and BRMS score in the manic group at 2 ,4 and 6 weeks after treatment were significantly lower than those be-fore treatment ,and the differences were statistically significant ( P＜ 0 .05 ) ;Spearman correlation analysis showed the serum CK level of the patients with mania was positively correlated with the prognosis index BRMS score (r＝0 .428 ,P＝0 .010) .Conclusion The level of serum CK in patients with mania was signifi-cantly high ,and the level of CK and the prognosis of the patients had obvious correlation .