{"doi":"10.1002/mgg3.2036","title":"A homozygous variant of <i>WDR45B</i> results in global developmental delay: Additional case and literature review","abstract":"<jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Global developmental delay (GDD) has a heterogeneous clinical profile among patients, accounting for approximately 1%–3% of cases in children. An increasing number of gene defects have been demonstrated to be associated with GDD; up to now, only limited studies have reported developmental disorders driven by WDR45B.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>Trio‐whole exome sequencing (Trio‐WES) was performed for the patient and her family. All variants with a minor allele frequency &lt;0.01 were selected for further interpretation according to the ACMG guidelines. Candidate pathogenic variants were validated by Sanger sequencing in her family.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>A homozygous nonsynonymous variant in <jats:italic>WDR45B</jats:italic> [NM_019613.4: c.677G&gt;C (p. Arg226Thr)] was identified from the proband. The variant was absent in published databases such as gnomAD and Exome Aggregation Consortium (ExAC). The variant was predicted to be damaging for proteins and classified as VUS according to the ACMG guidelines. We reviewed the literature, and the development delay level in our case was less severe than the other reported cases.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>We reported another case with a novel homozygous variant of <jats:italic>WDR45B</jats:italic> and showed the heterogeneity of clinical features.</jats:p></jats:sec>","journal":"Molecular Genetics &amp; Genomic Medicine","year":2022,"id":595438,"datarank":0.10397207708399181,"base_score":0.6931471805599453,"endowment":0.6931471805599453,"self_citation_contribution":0.10397207708399181,"citation_network_contribution":0.0,"self_endowment_contribution":0.10397207708399181,"citer_contribution":0.0,"corpus_percentile":null,"corpus_rank":null,"citation_count":1,"citer_count":0,"citers_with_citation_signal":0,"citers_with_endowment":0,"datacite_reuse_total":0,"is_dataset":false,"is_dataset_confidence":null,"is_data_producer":false,"deposit_databanks":null,"is_oa":false,"file_count":0,"downloads":0,"has_version_chain":false,"published_date":null,"fair_score":null,"fair_percentile":null,"algorithm_id":"datarank_citation_only_1hop_v6","ranking_scope":"data_only","authors":[{"id":1164416,"name":"Yan Lu","orcid":"0000-0002-7227-732X","position":1,"is_corresponding":false},{"id":1524750,"name":"Xiaoyu Tian","orcid":"0009-0000-0993-2187","position":2,"is_corresponding":false},{"id":1524751,"name":"Xinyi Men","orcid":null,"position":3,"is_corresponding":false},{"id":166162,"name":"Yange Zhang","orcid":null,"position":4,"is_corresponding":false},{"id":1524753,"name":"Huifang Yan","orcid":null,"position":5,"is_corresponding":false},{"id":1294743,"name":"Fan Yang","orcid":"0000-0003-3671-4745","position":6,"is_corresponding":false},{"id":626830,"name":"Zuozhen Yang","orcid":null,"position":7,"is_corresponding":false},{"id":1524757,"name":"Xiuxia Wang","orcid":"0000-0003-2756-9144","position":8,"is_corresponding":false},{"id":1524749,"name":"Jinhong Zhang","orcid":null,"position":0,"is_corresponding":false}],"reference_count":0,"raw_metadata":{"has_enrichment":true,"resolved":true,"title":"A homozygous variant of <i>WDR45B</i> results in global developmental delay: Additional case and literature review","abstract":"<jats:title>Abstract</jats:title><jats:sec><jats:title>Background</jats:title><jats:p>Global developmental delay (GDD) has a heterogeneous clinical profile among patients, accounting for approximately 1%–3% of cases in children. An increasing number of gene defects have been demonstrated to be associated with GDD; up to now, only limited studies have reported developmental disorders driven by WDR45B.</jats:p></jats:sec><jats:sec><jats:title>Methods</jats:title><jats:p>Trio‐whole exome sequencing (Trio‐WES) was performed for the patient and her family. All variants with a minor allele frequency &lt;0.01 were selected for further interpretation according to the ACMG guidelines. Candidate pathogenic variants were validated by Sanger sequencing in her family.</jats:p></jats:sec><jats:sec><jats:title>Results</jats:title><jats:p>A homozygous nonsynonymous variant in <jats:italic>WDR45B</jats:italic> [NM_019613.4: c.677G&gt;C (p. Arg226Thr)] was identified from the proband. The variant was absent in published databases such as gnomAD and Exome Aggregation Consortium (ExAC). The variant was predicted to be damaging for proteins and classified as VUS according to the ACMG guidelines. We reviewed the literature, and the development delay level in our case was less severe than the other reported cases.</jats:p></jats:sec><jats:sec><jats:title>Conclusion</jats:title><jats:p>We reported another case with a novel homozygous variant of <jats:italic>WDR45B</jats:italic> and showed the heterogeneity of clinical features.</jats:p></jats:sec>","is_dataset_classified":null,"base_score":0.6931471805599453,"endowment":0.6931471805599453,"datacite_reuse_total":0,"file_count":0,"downloads":0,"views":0,"has_version_chain":false,"is_dataset":false,"is_oa":false,"pmid":"35962600","pmcid":"PMC9544213","openalex_id":"https://openalex.org/W4291169681","authors":[],"funders":[],"total_grants":0,"fwci":0.168,"citation_percentile":0.57237415,"influential_citations":0,"citation_trend":[{"year":2022,"count":1}],"oa_status":"gold","license":"cc-by","oa_locations":[{"url":"https://doi.org/10.1002/mgg3.2036","host_type":"journal"},{"url":"https://doi.org/10.1002/mgg3.2036","host_type":"publisher"},{"url":"https://onlinelibrary.wiley.com/doi/pdf/10.1002/mgg3.2036","host_type":"publisher"},{"url":"https://onlinelibrary.wiley.com/doi/full-xml/10.1002/mgg3.2036","host_type":"publisher"},{"url":"https://pubmed.ncbi.nlm.nih.gov/35962600","host_type":"repository"},{"url":"https://doaj.org/article/c3d7c2a1028d4b12803d01cf75f36ad3","host_type":"repository"},{"url":"https://www.ncbi.nlm.nih.gov/pmc/articles/9544213","host_type":"repository"},{"url":"https://europepmc.org/articles/PMC9544213","host_type":"Europe_PMC"},{"url":"https://europepmc.org/articles/PMC9544213?pdf=render","host_type":"Europe_PMC"}],"fields_of_study":["Genomics and Rare Diseases","Neurological diseases and metabolism","Neurogenetic and Muscular Disorders Research","Adaptor Proteins, Signal Transducing","Child","Exome","Female","Gene Frequency","Homozygote","Humans","Proteins","Exome Sequencing"],"mesh_terms":["Exome Sequencing","Child","Female","Gene Frequency","Homozygote","Humans","Proteins","Adaptor Proteins, Signal Transducing","Exome"],"keywords":["Proband","Sanger sequencing","Exome sequencing","Exome","Global developmental delay","Genetics","Nonsynonymous substitution","Medicine","Medical genetics","Biology","Bioinformatics","Gene","Computational biology","Mutation","Phenotype","Genome","Clinical Heterogeneity","Wdr45b","Trio-wes"],"sdg_mappings":[{"sdg_number":0,"sdg_label":"Partnerships for the goals"}],"linked_datasets":[],"clinical_trials":[],"software_tools":[],"database_accessions":[],"source":"live","citation_network_status":"fetched"},"created_at":"2026-07-27T17:27:21.474374Z","pmid":null,"pmcid":null,"fwci":null,"citation_percentile":null,"influential_citations":0,"oa_status":null,"license":null,"views":0,"total_file_size_bytes":0,"version_count":0,"fair_f":null,"fair_a":null,"fair_i":null,"fair_r":null,"fair_zscore":null,"fair_rationale":null,"fair_model":null,"fair_agent_version":null,"fair_fulltext_source":null,"fair_has_llm":null,"fair_computed_at":null,"clinical_trials":[],"software_tools":[],"db_accessions":[],"linked_datasets":[],"topics":[]}