Identification of novel variations of oculocutaneous albinism type 2 with Prader–Willi syndrome/Angelman syndrome in two Chinese families
In: Frontiers in Genetics, Jg. 14 (2023-03-01)
Online
academicJournal
Zugriff:
Objective: Oculocutaneous albinism (OCA) is an autosomal recessive disorder caused by a variety of genomic variations. Our aim is to identify the molecular basis of OCA in two families and lay the foundation for prenatal diagnosis.Methods: Four types of OCA-causing mutations in the TYR, p, TYRP1, or SLC45A2 genes were screened. Linkage analysis was performed because the mutations found in the p gene violated the laws of classical Mendelian heredity. Primer-walking sequencing combined with microsatellite and single-nucleotide polymorphism analysis was used to ascertain deletion ranges. Bioinformatics methods were used to assess the pathogenicity of the new mutations.Results: Proband 1 was diagnosed as OCA2 with Prader–Willi syndrome (PWS) due to a novel atypical paternal deletion (chromosome 15: 22330347–26089649) and a pathogenic mutation, c.1327G>A (Val443Ile), in the p gene of the maternal chromosome. The prenatal diagnosis results for family 1 indicated the fetus was a heterozygous carrier (c.1327G>A in the p gene) with a normal phenotype. Proband 2 was diagnosed as OCA2 with Angelman syndrome (AS) due to a typical maternal deletion of chromosome 15q11-q13 and a novel mutation, c.1514T>C (Phe505Ser), in the p gene of the paternal chromosome. This novel mutation c.1514T>C (Phe505Ser) in the p gene was predicted as a pathogenic mutation.Conclusion: Our study has shown clear genotype–phenotype correlations in patients affected by distinct deletions of the PWS or AS region and missense mutations in the p gene. Our results have enriched the mutation spectrum of albinism diseases and provided insights for more accurate diagnosis and genetic counseling.
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Identification of novel variations of oculocutaneous albinism type 2 with Prader–Willi syndrome/Angelman syndrome in two Chinese families
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Autor/in / Beteiligte Person: | Chen, XiaoFei ; Fang, ZiShui ; Pang, Ting ; Li, DongZhi ; Lei, Jie ; Jiang, WeiYing ; Li, HongYi |
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Zeitschrift: | Frontiers in Genetics, Jg. 14 (2023-03-01) |
Veröffentlichung: | Frontiers Media S.A., 2023 |
Medientyp: | academicJournal |
ISSN: | 1664-8021 (print) |
DOI: | 10.3389/fgene.2023.1135698 |
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