https://scholars.lib.ntu.edu.tw/handle/123456789/525058
標題: | De novo mutation and skewed X-inactivation in girl with BCAP31-related syndrome | 作者: | Kao H.-J. Chiang H.-L. Chen H.-H. PI-CHUAN FAN Tu Y.-F. Chou Y.-Y. WUH-LIANG HWU Lin C.-L. Kwok P.-Y. NI-CHUNG LEE |
公開日期: | 2020 | 出版社: | John Wiley and Sons Inc | 卷: | 41 | 期: | 10 | 起(迄)頁: | 1775-1782 | 來源出版物: | Human Mutation | 摘要: | Full genome analysis of a young girl with deafness, dystonia, central hypomyelination, refractory seizure, and fluctuating liver function impairment revealed a heterozygous, de novo variant in the BCAP31 gene on chromosome Xq28 (NM_001256447.2:c.92G>A), mutations of which caused the X-linked recessive severe neurologic disorder deafness, dystonia, and cerebral hypomyelination. Reverse transcription-polymerase chain reaction of the patient's white blood cells showed the absence of wild-type BCAP31 messenger RNA (mRNA) but the presence of two novel BCAP31 mRNAs. The major alternatively spliced mRNA is due to Exon 2 skipping and the utilization of a new initiation site in Exon 3 that leads to a frameshift and truncated transcript while the minor novel mRNA has a 110 nucleotide insertion to Exon 2. Phasing studies showed that the de novo variant arose in the paternal X chromosome. X chromosome inactivation assay was done and confirmed that the patient's maternal X chromosome was preferentially inactivated, providing evidence that the mutated BCAP31 gene was the one predominantly expressed. According to the American College of Medical Genetics and Genomics guideline, this variant is deemed “pathogenic” (PS2, PS3, PM2, PP3, and PP4) and deleterious. This is the first reported female patient in BCAP31-related syndrome resulted from skewed X-inactivation and a de novo mutation in the active X chromosome. ? 2020 Wiley Periodicals LLC |
URI: | https://www.scopus.com/inward/record.uri?eid=2-s2.0-85088288986&doi=10.1002%2fhumu.24080&partnerID=40&md5=0e3bbd0c99dd5338dd85204fadcf9b9d https://scholars.lib.ntu.edu.tw/handle/123456789/525058 |
ISSN: | 1059-7794 | DOI: | 10.1002/humu.24080 | SDG/關鍵字: | messenger RNA; Article; bcap 31 gene; case report; child; clinical article; clinical feature; demyelinating disease; disease severity; dystonia; exon skipping; female; gene; genome analysis; hearing impairment; human; leukocyte; neurologic disease; nuclear magnetic resonance imaging; preschool child; priority journal; reverse transcription polymerase chain reaction; X chromosome inactivation; X chromosome recessive disorder |
顯示於: | 醫學系 |
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