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| Content Provider | Springer Nature : BioMed Central |
|---|---|
| Author | Yuan, Haiming Wang, Qingming Zeng, Xiumei He, Peiqing Xu, Wanfang Guo, Hongmei Liu, Yanhui Lin, Yangyang |
| Abstract | Background Homozygous or compound heterozygous variants in the KLHL40 gene cause nemaline myopathy 8 (NEM8), a severe autosomal recessive muscle disorder characterized by prenatal polyhydramnios, fetal akinesia or hypokinesia, joint contractures, fractures, respiratory failure and dysphagia. Currently, 46 individuals with NEM8 have been described in the literature, and 30 variants in KLHL40 have been identified. Results Here, we reported five individuals from four unrelated Chinese families who presented common features of nemaline myopathy and infrequent clinical characteristics. Whole-exome sequencing (WES) was used to identify the causative gene. WES identified a recurrent missense variant c.1516A>C (p.Thr506Pro) and a novel frameshift variant c.543del (p.Ser182Profs*17) in KLHL40 in patient 1, a nonsense variant c.602G>A (p.Trp201*) and a missense variant c.1516A>C (p.Thr506Pro) in KLHL40 in patient 2, and homozygous variant c.1516A>C (p.Thr506Pro) in KLHL40 in patient 3 and both siblings (patients 4 and 5), all of which were confirmed by Sanger sequencing. Next, we estimated the incidence of this disorder in the southern and northern Chinese population to be 4.59/106 and 2.95/106, respectively, based on the cumulative allele frequency of pathogenic variants in internal database. Conclusion The results of our study expand the mutation spectrum of KLHL40 and enrich our understanding of the clinical characteristics of NEM8. Genetic counseling was provided for the four families involved in this study. Given the severity and the relatively high incidence of this condition, we strongly suggest that KLHL40 be incorporated into a carrier screening panel for the Chinese population. |
| Related Links | https://ojrd.biomedcentral.com/counter/pdf/10.1186/s13023-022-02306-9.pdf |
| Ending Page | 7 |
| Page Count | 7 |
| Starting Page | 1 |
| File Format | HTM / HTML |
| ISSN | 17501172 |
| DOI | 10.1186/s13023-022-02306-9 |
| Journal | Orphanet Journal of Rare Diseases |
| Issue Number | 1 |
| Volume Number | 17 |
| Language | English |
| Publisher | BioMed Central |
| Publisher Date | 2022-04-04 |
| Access Restriction | Open |
| Subject Keyword | Medicine Public Health Pharmacology Toxicology Human Genetics KLHL40 Nemaline myopathy Polyhydramnios Fetal akinesia Respiratory failure Carrier screening Medicine/Public Health Pharmacology/Toxicology |
| Content Type | Text |
| Resource Type | Article |
| Subject | Pharmacology (medical) Genetics (clinical) |
| Journal Impact Factor | 3.4/2023 |
| 5-Year Journal Impact Factor | 3.9/2023 |
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