تقرير
Precocious puberty and anal stenosis in an African patient with Rothmund-Thomson syndrome.
| العنوان: | Precocious puberty and anal stenosis in an African patient with Rothmund-Thomson syndrome. |
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| المؤلفون: | Lorenzo C; Department of Pediatrics, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, EPE, Lisbon, Portugal., Travessa AM; Medical Genetics Department and ERN-BOND, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, EPE, Lisbon, Portugal.; Faculty of Medicine, Institute of Histology and Developmental Biology, University of Lisbon, Lisbon, Portugal., Ferreira AC; Department of Pediatrics, Hospital de Santa Maria, Centro Hospitalar Universitário Lisboa Norte, EPE, Lisbon, Portugal., Modamio-Høybjør S; Skeletal Dysplasia Multidisciplinary Unit (UMDE) and ERN-BOND, La Paz University Hospital, Madrid, Spain.; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, IdiPAZ, Universidad Autónoma de Madrid, Madrid, Spain.; CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), ISCIII, Madrid, Spain., Heath KE; Skeletal Dysplasia Multidisciplinary Unit (UMDE) and ERN-BOND, La Paz University Hospital, Madrid, Spain.; Institute of Medical and Molecular Genetics (INGEMM), La Paz University Hospital, IdiPAZ, Universidad Autónoma de Madrid, Madrid, Spain.; CIBERER (Centro de Investigación Biomédica en Red de Enfermedades Raras), ISCIII, Madrid, Spain., Pereira C; Pediatric Endocrinology Unit, Department of Pediatrics, Hospital de Santa Maria - Centro Hospitalar Universitário Lisboa Norte, EPE, Lisbon, Portugal. |
| المصدر: | American journal of medical genetics. Part A [Am J Med Genet A] 2023 Jan; Vol. 191 (1), pp. 280-283. Date of Electronic Publication: 2022 Sep 26. |
| نوع المنشور: | 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: | Rothmund-Thomson Syndrome*/pathology , Rothmund-Thomson Syndrome*/therapy , Osteosarcoma* , Puberty, Precocious*/genetics , Bone Neoplasms*, Female ; Humans ; Constriction, Pathologic ; RecQ Helicases/genetics ; Mutation |
| مستخلص: | Rothmund-Thomson syndrome (RTS) is a rare autosomal recessive disorder characterized by a rash that progresses to poikiloderma. Other common features include sparse hair, eyelashes and eyebrows, short stature, variable skeletal abnormalities, dental defects, cataracts, hypogonadism, and an increased risk for cancer, especially osteosarcoma and skin cancer. RTS is caused by biallelic pathogenic variants in ANAPC1 (Type 1 RTS) or RECQL4 (Type 2 RTS). We present an African girl with Type 2 RTS caused by a nonsense variant and an intronic variant in RECQL4. The patient presented precocious puberty, which has not been previously reported in RTS and that was treated with a GnRH analog, and anal stenosis, which has only been reported once. This case highlights the need to consider deep intronic variants in patients with RTS when pathogenic variants in the coding regions and exon/intron boundaries are not identified and expands the phenotypic spectrum of this disorder. (© 2022 Wiley Periodicals LLC.) |
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| فهرسة مساهمة: | Keywords: RECQL4; Rothmund-Thomson syndrome; anal stenosis; intronic variant; poikiloderma; precocious puberty |
| المشرفين على المادة: | EC 3.6.4.12 (RecQ Helicases) |
| تواريخ الأحداث: | Date Created: 20220927 Date Completed: 20221216 Latest Revision: 20221221 |
| رمز التحديث: | 20240628 |
| DOI: | 10.1002/ajmg.a.62980 |
| PMID: | 36164748 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.62980 |