مراجعة
Further delineation of the CWC27-associated spliceosomeopathy: Case report and review of the literature.
| العنوان: | Further delineation of the CWC27-associated spliceosomeopathy: Case report and review of the literature. |
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| المؤلفون: | Yassin SH; Shiley Eye Institute, University of California, San Diego, California, USA., Henderson R; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Lenberg J; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Murillo V; Rady Children's Institute for Genomic Medicine, San Diego, California, USA., Murdock DR; Invitae Clinical Genomics Group, Invitae Corporation, San Francisco, California, USA., Friedman J; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.; Rady Children's Hospital-San Diego, Genetics and Dysmorphology Division, San Diego, California, USA.; Departments of Neurosciences and Pediatrics, University of California, San Diego, California, USA., Jones MC; Rady Children's Hospital-San Diego, Genetics and Dysmorphology Division, San Diego, California, USA.; Division of Genetics, Department of Pediatrics, University of California, San Diego, California, USA., Wigby K; Rady Children's Institute for Genomic Medicine, San Diego, California, USA.; Rady Children's Hospital-San Diego, Genetics and Dysmorphology Division, San Diego, California, USA.; Division of Genetics, Department of Pediatrics, University of California, San Diego, California, USA., Borooah S; Shiley Eye Institute, University of California, San Diego, California, USA. |
| المصدر: | American journal of medical genetics. Part A [Am J Med Genet A] 2023 May; Vol. 191 (5), pp. 1378-1383. Date of Electronic Publication: 2023 Jan 31. |
| نوع المنشور: | Review; Case Reports |
| اللغة: | English |
| بيانات الدورية: | Publisher: Wiley-Blackwell Country of Publication: United States NLM ID: 101235741 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1552-4833 (Electronic) Linking ISSN: 15524825 NLM ISO Abbreviation: Am J Med Genet A Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: Hoboken, N.J. : Wiley-Blackwell Original Publication: Hoboken, N.J. : Wiley-Liss, c2003- |
| مواضيع طبية MeSH: | Retinitis Pigmentosa*/genetics , RNA Precursors*/genetics, Female ; Humans ; Male ; Cyclophilins/genetics ; Cyclophilins/metabolism ; Peptidylprolyl Isomerase/genetics ; RNA Splicing/genetics ; Spliceosomes/genetics ; Mexico/ethnology |
| مستخلص: | Pre-mRNA splicing factors are crucial in regulating transcript diversity, by removing introns from eukaryotic transcripts, an essential step in gene expression. Splicing of pre-mRNA is catalyzed by spliceosomes. CWC27 is a cyclophilin associated with spliceosome, in which genetic defects of its components have been linked to spliceosomopathies with clinical phenotypes including skeletal developmental defects, retinitis pigmentosa (RP), short stature, skeletal anomalies, and neurological disorders. We report two siblings (male and female) of Mexican descent with a novel homozygous frameshift variant in CWC27 and aim to highlight the cardinal features among the previously described 12 cases as well as expand the currently recognized phenotypic spectrum. Both siblings presented with a range of ocular and extraocular manifestations including novel features such as solitary kidney and tarsal coalition in the male sibling, together with gait abnormalities, and Hashimoto's thyroiditis in the female sibling. Finally, we highlight ectodermal involvement including sparse scalp hair, eyebrows and lashes, pigmentary differences, nail dysplasia, and dental anomalies as a core phenotype associated with the CWC27 spliceosomopathy. (© 2023 Wiley Periodicals LLC.) |
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| فهرسة مساهمة: | Keywords: CWC27; Spliceosomopathies; cataract; ectodermal dysplasia; frameshift; retinitis pigmentosa |
| المشرفين على المادة: | EC 5.2.1.- (Cwc27 protein, human) EC 5.2.1.- (Cyclophilins) EC 5.2.1.8 (Peptidylprolyl Isomerase) 0 (RNA Precursors) |
| تواريخ الأحداث: | Date Created: 20230131 Date Completed: 20230411 Latest Revision: 20230411 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1002/ajmg.a.63134 |
| PMID: | 36718996 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.63134 |