A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review
Abstract Background 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 deve...
| Main Authors: | , , , , , , , , |
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| Format: | Article |
| Language: | English |
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Wiley
2022-10-01
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| Series: | Molecular Genetics & Genomic Medicine |
| Subjects: | |
| Online Access: | https://doi.org/10.1002/mgg3.2036 |
| _version_ | 1797996935111507968 |
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| author | Jinhong Zhang Yan Lu Xiaoyu Tian Xinyi Men Yange Zhang Huifang Yan Fan Yang Zuozhen Yang Xiuxia Wang |
| author_facet | Jinhong Zhang Yan Lu Xiaoyu Tian Xinyi Men Yange Zhang Huifang Yan Fan Yang Zuozhen Yang Xiuxia Wang |
| author_sort | Jinhong Zhang |
| collection | DOAJ |
| description | Abstract Background 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. Methods Trio‐whole exome sequencing (Trio‐WES) was performed for the patient and her family. All variants with a minor allele frequency <0.01 were selected for further interpretation according to the ACMG guidelines. Candidate pathogenic variants were validated by Sanger sequencing in her family. Results A homozygous nonsynonymous variant in WDR45B [NM_019613.4: c.677G>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. Conclusion We reported another case with a novel homozygous variant of WDR45B and showed the heterogeneity of clinical features. |
| first_indexed | 2024-04-11T10:25:17Z |
| format | Article |
| id | doaj.art-c3d7c2a1028d4b12803d01cf75f36ad3 |
| institution | Directory Open Access Journal |
| issn | 2324-9269 |
| language | English |
| last_indexed | 2024-04-11T10:25:17Z |
| publishDate | 2022-10-01 |
| publisher | Wiley |
| record_format | Article |
| series | Molecular Genetics & Genomic Medicine |
| spelling | doaj.art-c3d7c2a1028d4b12803d01cf75f36ad32022-12-22T04:29:38ZengWileyMolecular Genetics & Genomic Medicine2324-92692022-10-011010n/an/a10.1002/mgg3.2036A homozygous variant of WDR45B results in global developmental delay: Additional case and literature reviewJinhong Zhang0Yan Lu1Xiaoyu Tian2Xinyi Men3Yange Zhang4Huifang Yan5Fan Yang6Zuozhen Yang7Xiuxia Wang8Department of Pediatrics The Second Hospital of Hebei Medical University Shijiazhuang Hebei ChinaDepartment of Pediatrics The Second Hospital of Hebei Medical University Shijiazhuang Hebei ChinaDepartment of Pediatrics The Second Hospital of Hebei Medical University Shijiazhuang Hebei ChinaDepartment of Pediatrics The Second Hospital of Hebei Medical University Shijiazhuang Hebei ChinaDepartment of Pediatrics The Second Hospital of Hebei Medical University Shijiazhuang Hebei ChinaDepartment of Pediatrics Hengshui people's Hospital Hengshui Hebei ChinaCipher Gene LLC Beijing ChinaCipher Gene LLC Beijing ChinaDepartment of Pediatrics The Second Hospital of Hebei Medical University Shijiazhuang Hebei ChinaAbstract Background 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. Methods Trio‐whole exome sequencing (Trio‐WES) was performed for the patient and her family. All variants with a minor allele frequency <0.01 were selected for further interpretation according to the ACMG guidelines. Candidate pathogenic variants were validated by Sanger sequencing in her family. Results A homozygous nonsynonymous variant in WDR45B [NM_019613.4: c.677G>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. Conclusion We reported another case with a novel homozygous variant of WDR45B and showed the heterogeneity of clinical features.https://doi.org/10.1002/mgg3.2036clinical heterogeneityglobal developmental delayTrio‐WESWDR45B |
| spellingShingle | Jinhong Zhang Yan Lu Xiaoyu Tian Xinyi Men Yange Zhang Huifang Yan Fan Yang Zuozhen Yang Xiuxia Wang A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review Molecular Genetics & Genomic Medicine clinical heterogeneity global developmental delay Trio‐WES WDR45B |
| title | A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review |
| title_full | A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review |
| title_fullStr | A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review |
| title_full_unstemmed | A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review |
| title_short | A homozygous variant of WDR45B results in global developmental delay: Additional case and literature review |
| title_sort | homozygous variant of wdr45b results in global developmental delay additional case and literature review |
| topic | clinical heterogeneity global developmental delay Trio‐WES WDR45B |
| url | https://doi.org/10.1002/mgg3.2036 |
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