{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Chang SH"],"funding":["Key Research and Development Program of Liaoning Province","Natural Science Foundation of Hunan Province","Natural Science Project of Changsha City","Youth Science Foundation of Xiangya Hospital","National Natural Science Foundation of China"],"pagination":["31"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC11806549"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["51(1)"],"pubmed_abstract":["<h4>Background</h4>Houge type of X-linked syndromic mental retardation (MRXSHG) is a type of X-linked condition which is mainly manifested as delayed development, mental retardation, epilepsy that begins at an early age, and delayed language acquisition. MRXSHG is a serious disorder with CNKSR2 variant and at least 34 variants have been identified in MRXSHG patients. However, the genotype-phenotype correlation and variants characteristics of CNKSR2 need further investigation and improvement.<h4>Methods</h4>Two Chinese MRXSHG families were recruited, and their genetic causes were investigated using whole-exome sequencing (WES), Sanger sequencing, and bioinformatics analysis. To verify the impact of these variants, we used real-time PCR and minigenes consisting of exon 14, intron 14, and exo"],"journal":["Italian journal of pediatrics"],"pubmed_title":["Identification of Houge type of X-linked syndromic mental retardation caused by CNKSR2 truncated variants."],"pmcid":["PMC11806549"],"funding_grant_id":["82170598","2022sk2034","2024JJ6693","2022JJ30058","2022Q10","kq2202117","2022JJ30967"],"pubmed_authors":["Jin JY","Xiang R","Wang RY","Hu YQ","Chang SH","Wang X"],"additional_accession":[]},"is_claimable":false,"name":"Identification of Houge type of X-linked syndromic mental retardation caused by CNKSR2 truncated variants.","description":"<h4>Background</h4>Houge type of X-linked syndromic mental retardation (MRXSHG) is a type of X-linked condition which is mainly manifested as delayed development, mental retardation, epilepsy that begins at an early age, and delayed language acquisition. MRXSHG is a serious disorder with CNKSR2 variant and at least 34 variants have been identified in MRXSHG patients. However, the genotype-phenotype correlation and variants characteristics of CNKSR2 need further investigation and improvement.<h4>Methods</h4>Two Chinese MRXSHG families were recruited, and their genetic causes were investigated using whole-exome sequencing (WES), Sanger sequencing, and bioinformatics analysis. To verify the impact of these variants, we used real-time PCR and minigenes consisting of exon 14, intron 14, and exo","dates":{"release":"2025-01-01T00:00:00Z","publication":"2025 Feb","modification":"2026-06-01T05:02:33.382Z","creation":"2025-04-04T13:11:24.11Z"},"accession":"S-EPMC11806549","cross_references":{"pubmed":["39920708"],"doi":["10.1186/s13052-025-01877-0"]}}