دورية أكاديمية
Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients.
| العنوان: | Pseudoachondroplasia: Phenotype and genotype in 11 Indian patients. |
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| المؤلفون: | Jacob P; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Bhavani GSL; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Shah H; Department of Orthopaedics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Galada C; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Nampoothiri S; Department of Paediatric Genetics, Amrita Institute of Medical Sciences & Research Centre, Kochi, India., Kamath N; Department of Paediatrics, Kasturba Medical College, Mangalore, Manipal Academy of Higher Education, Mangalore, India., Phadke SR; Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow, India., Muranjan M; Genetic Clinic, KEM Hospital, Mumbai, India., Datar CA; Sahyadri Medical Genetics & Tissue Engineering Facility, KEM Hospital, Pune, India., Shukla A; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India., Girisha KM; Department of Medical Genetics, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India. |
| المصدر: | American journal of medical genetics. Part A [Am J Med Genet A] 2022 Mar; Vol. 188 (3), pp. 751-759. Date of Electronic Publication: 2021 Nov 09. |
| نوع المنشور: | 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: | Achondroplasia*/diagnosis , Achondroplasia*/genetics, Cartilage Oligomeric Matrix Protein/genetics ; Extracellular Matrix Proteins/genetics ; Genotype ; Humans ; Matrilin Proteins/genetics ; Mutation ; Phenotype |
| مستخلص: | Pseudoachondroplasia (PSACH) is an autosomal dominant disorder characterized by rhizomelic short-limbed skeletal dysplasia. The primary clinical and radiographic features include disproportionate dwarfism, joint laxity and hyperextensibility, exaggerated lumbar lordosis, and late ossification of the epiphyses. Identification of disease-causing variants in heterozygous state in COMP establishes the molecular diagnosis of PSACH. We examined 11 families with clinical features suggestive of PSACH. In nine families, we used Sanger sequencing of exons 8-19 of COMP (NM_000095.2) and in two families exome sequencing was used for confirming the diagnosis. We identified 10 de novo variants, including five known variants (c.925G>A, c.976G>A, c.1201G>T, c.1417_1419del, and c.1511G>A) and five variants (c.874T>C, c.1201G>C, c.1309G>A, c.1416_1421delCGACAA, and c.1445A>T) which are not reported outside Indian ethnicity. We hereby report the largest series of individuals with molecular diagnosis of PSACH from India and reiterate the well-known genotype-phenotype corelation in PSACH. (© 2021 Wiley Periodicals LLC.) |
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| فهرسة مساهمة: | Keywords: COMP; autosomal dominant; psuedoachondroplasia |
| المشرفين على المادة: | 0 (Cartilage Oligomeric Matrix Protein) 0 (Extracellular Matrix Proteins) 0 (Matrilin Proteins) |
| SCR Disease Name: | Pseudoachondroplasia |
| تواريخ الأحداث: | Date Created: 20211109 Date Completed: 20220418 Latest Revision: 20220531 |
| رمز التحديث: | 20221213 |
| DOI: | 10.1002/ajmg.a.62566 |
| PMID: | 34750995 |
| قاعدة البيانات: | MEDLINE |
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