BackgroundHIST1H1E is a member of the H1 gene family. Excess de novo likely gene-disruptive variants involving the C-terminal tail of HIST1H1E have been reported in neurodevelopmental disorders. Although clinical phenotypes in some patients have been described in single studies, few studies have reviewed the genotype and phenotype relationships using a relatively large cohort of patients with HIST1H1E variants. MethodsWhole-exome sequencing (WES) was performed on the proband. The variant was validated using Sanger sequencing in both proband and parents. Published HIST1H1E variants in neuropsychiatric disorders were reviewed. ResultsHerein, we reported a new de novo frameshift mutation in HIST1H1E (NM_005321.2, c.416_419dupAGAA, p.Ala141GlufsTer56) in an individual with Rahman syndrome. To explore the genotype-phenotype correlations for HIST1H1E variants in neurodevelopmental disorders, we comprehensively curated and summarized 23 variants and the clinical features from 52 patients. Our findings revealed that likely gene-disrupting variants in HIST1H1E contribute to a wide range of neurodevelopmental phenotypes. We observed the common phenotypes including craniofacial features, ID, hypotonia, and autism/behavior problem in patients with HIST1H1E variants. While the different genotypes corresponding to different phenotypes or the same phenotype were also observed. ConclusionThese data provide scientific evidence for the genetic diagnosis and precision clinical management.
基金：
National Natural Science Foundation
of China, Grant/Award Number:
82160219; Doctor Foundation of the
First People's Hospital of Yunnan
province, Grant/Award Number:
KHBS-2020-
018;
The Joint Special
Research Funds of Kunming Medical
University, Grant/Award Number:
202001AY070001-156;
The Open
Fund of Reproductive Obstetrics and
Gynecology Clinical Center of Yunnan
Province, Grant/Award Number:
zx2019-01-
01
and 2022LCZXKF-SZ02;
Special Foundation for Basic Research
Program of Yunnan province, Grant/
Award Number: 202101AT070233;
Talent Introduction Fund of the First
People's Hospital of Yunnan province,
Grant/Award Number: KHYJ-2019-
001
第一作者机构：[1]First Peoples Hosp Yunnan Prov, Dept Med Genet, Kunming, Peoples R China[2]Kunming Univ Sci & Technol, Affiliated Hosp, Kunming, Peoples R China[3]Natl Hlth Commiss, Key Lab Preconcept Hlth Birth Western China, Kunming, Peoples R China
共同第一作者：
通讯作者：
通讯机构：[1]First Peoples Hosp Yunnan Prov, Dept Med Genet, Kunming, Peoples R China[2]Kunming Univ Sci & Technol, Affiliated Hosp, Kunming, Peoples R China[3]Natl Hlth Commiss, Key Lab Preconcept Hlth Birth Western China, Kunming, Peoples R China
推荐引用方式(GB/T 7714)：
Zhao Wenjing,Zhang Yinhong,Lv Tao,et al.A case report of a novel HIST1H1E mutation and a review of the bibliography to evaluate the genotype-phenotype correlations[J].MOLECULAR GENETICS & GENOMIC MEDICINE.2023,11(12):doi:10.1002/mgg3.2273.
APA：
Zhao, Wenjing,Zhang, Yinhong,Lv, Tao,He, Jing&Zhu, Baosheng.(2023).A case report of a novel HIST1H1E mutation and a review of the bibliography to evaluate the genotype-phenotype correlations.MOLECULAR GENETICS & GENOMIC MEDICINE,11,(12)
MLA：
Zhao, Wenjing,et al."A case report of a novel HIST1H1E mutation and a review of the bibliography to evaluate the genotype-phenotype correlations".MOLECULAR GENETICS & GENOMIC MEDICINE 11..12(2023)
