دورية أكاديمية
Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype.
| العنوان: | Microdeletion of 9q22.3: A patient with minimal deletion size associated with a severe phenotype. |
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| المؤلفون: | Ewing AD; Mater Research Institute-University of Queensland, Translational Research Institute, Woolloongabba, Queensland, Australia., Cheetham SW; Mater Research Institute-University of Queensland, Translational Research Institute, Woolloongabba, Queensland, Australia., McGill JJ; Department of Chemical Pathology, Royal Brisbane and Women's Hospital, Herston, Queensland, Australia., Sharkey M; Paddington Dermatology Specialist Clinic, Paddington, Queensland, Australia., Walker R; QLD Youth Cancer Service, Queensland Children's Hospital, South Brisbane, Queensland, Australia.; School of Clinical Medicine, The University of Queensland, Herston, Queensland, Australia., West JA; Northside Clinical School, Prince Charles Hospital, The University of Queensland, Chermside, Queensland, Australia., West MJ; Northside Clinical School, Prince Charles Hospital, The University of Queensland, Chermside, Queensland, Australia., Summers KM; Mater Research Institute-University of Queensland, Translational Research Institute, Woolloongabba, Queensland, Australia. |
| المصدر: | American journal of medical genetics. Part A [Am J Med Genet A] 2021 Jul; Vol. 185 (7), pp. 2070-2083. Date of Electronic Publication: 2021 May 07. |
| نوع المنشور: | Case Reports; Journal Article; Research Support, Non-U.S. Gov't |
| 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: | Basal Cell Nevus Syndrome/*genetics , DNA Helicases/*genetics , Fanconi Anemia Complementation Group C Protein/*genetics , Patched-1 Receptor/*genetics, Adolescent ; Basal Cell Nevus Syndrome/epidemiology ; Basal Cell Nevus Syndrome/pathology ; Child ; Child, Preschool ; Chromosome Disorders/genetics ; Chromosome Disorders/pathology ; Chromosomes, Human, Pair 9/genetics ; Genetic Predisposition to Disease ; Humans ; Infant ; Infant, Newborn ; Male ; Neoplasm Recurrence, Local/epidemiology ; Neoplasm Recurrence, Local/genetics ; Neoplasm Recurrence, Local/pathology ; Odontogenic Cysts/genetics ; Odontogenic Cysts/pathology ; Phenotype ; Severity of Illness Index |
| مستخلص: | Basal cell nevus syndrome (also known as Gorlin Syndrome; MIM109400) is an autosomal dominant disorder characterized by recurrent pathological features such as basal cell carcinomas and odontogenic keratocysts as well as skeletal abnormalities. Most affected individuals have point mutations or small insertions or deletions within the PTCH1 gene on human chromosome 9, but there are some cases with more extensive deletion of the region, usually including the neighboring FANCC and/or ERCC6L2 genes. We report a 16-year-old patient with a deletion of approximately 400,000 bases which removes only PTCH1 and some non-coding RNA genes but leaves FANCC and ERCC6L2 intact. In spite of the small amount of DNA for which he is haploid, his phenotype is more extreme than many individuals with longer deletions in the region. This includes early presentation with a large number of basal cell nevi and other skin lesions, multiple jaw keratocysts, and macrosomia. We found that the deletion was in the paternal chromosome, in common with other macrosomia cases. Using public databases, we have examined possible interactions between sequences within and outside the deletion and speculate that a regulatory relationship exists with flanking genes, which is unbalanced by the deletion, resulting in abnormal activation or repression of the target genes and hence the severity of the phenotype. (© 2021 The Authors. American Journal of Medical Genetics Part A published by Wiley Periodicals LLC.) |
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| فهرسة مساهمة: | Keywords: 9q22.3 deletion; Gorlin syndrome; PTCH1; basal cell nevus syndrome |
| المشرفين على المادة: | 0 (FANCC protein, human) 0 (Fanconi Anemia Complementation Group C Protein) 0 (Patched-1 Receptor) EC 3.6.4.- (DNA Helicases) EC 3.6.4.12 (ERCC6L2 protein, human) |
| SCR Disease Name: | 9q22.3 Microdeletion |
| تواريخ الأحداث: | Date Created: 20210507 Date Completed: 20220103 Latest Revision: 20220103 |
| رمز التحديث: | 20221213 |
| مُعرف محوري في PubMed: | PMC8251932 |
| DOI: | 10.1002/ajmg.a.62224 |
| PMID: | 33960642 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1552-4833 |
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| DOI: | 10.1002/ajmg.a.62224 |