دورية أكاديمية
أعرض في EDS

RUNX2-related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4-related Pyle disease.

التفاصيل البيبلوغرافية
العنوان: RUNX2-related metaphyseal dysplasia with maxillary hypoplasia: A rare skeletal disorder resembling SFRP4-related Pyle disease.
المؤلفون: Hordyjewska-Kowalczyk E; Laboratory for Skeletal Dysplasia Research, Department of Human Genetics, KU Leuven, Leuven, Belgium., Wuyts W; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Edegem, Belgium., Boeckx N; Department of Medical Genetics, Antwerp University Hospital and University of Antwerp, Edegem, Belgium., Verdonck A; Department of Oral Health Sciences - Orthodontics, KU Leuven, Leuven, Belgium.; Service of Dentistry, University Hospitals Leuven, Leuven, Belgium., Hendrickx G; Laboratory for Skeletal Dysplasia Research, Department of Human Genetics, KU Leuven, Leuven, Belgium., Mortier G; Laboratory for Skeletal Dysplasia Research, Department of Human Genetics, KU Leuven, Leuven, Belgium.; Centre for Human Genetics, University Hospital Leuven, Leuven, Belgium.
المصدر: Clinical genetics [Clin Genet] 2024 Apr; Vol. 105 (4), pp. 434-439. Date of Electronic Publication: 2023 Dec 18.
نوع المنشور: Review; Journal Article
اللغة: English
بيانات الدورية: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
أسماء مطبوعة: Original Publication: Copenhagen, Munksgaard.
مواضيع طبية MeSH: Brachydactyly* , Osteochondrodysplasias*/diagnostic imaging , Osteochondrodysplasias*/genetics , Micrognathism* , Cleidocranial Dysplasia*, Male ; Humans ; Adolescent ; Core Binding Factor Alpha 1 Subunit/genetics ; Proto-Oncogene Proteins
مستخلص: Metaphyseal dysplasia with maxillary hypoplasia with or without brachydactyly (MDMHB) is an ultra-rare skeletal dysplasia caused by heterozygous intragenic RUNX2 duplications, comprising either exons 3 to 5 or exons 3 to 6 of RUNX2. In this study, we describe a 14-year-old Belgian boy with metaphyseal dysplasia with maxillary hypoplasia but without brachydactyly. Clinical and radiographic examination revealed mild facial dysmorphism, dental anomalies, enlarged clavicles, genua valga and metaphyseal flaring and thin cortices with an osteoporotic skeletal appearance. Exome sequencing led to the identification of a de novo heterozygous tandem duplication within RUNX2, encompassing exons 3 to 7. This duplication is larger than the ones previously reported in MDMHB cases since it extends into the C-terminal activation domain of RUNX2. We review previously reported cases with MDMHB and highlight the resemblance of this disorder with Pyle disease, which may be explained by intersecting molecular pathways between RUNX2 and sFRP4. This study expands our knowledge on the genotypic and phenotypic characteristics of MDMHB and the role of RUNX2 in rare bone disorders.
(© 2023 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.)
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فهرسة مساهمة: Keywords: Pyle disease; RUNX2; SFRP4; intragenic duplication; metaphyseal dysplasia with maxillary hypoplasia; skeletal dysplasia
المشرفين على المادة: 0 (Core Binding Factor Alpha 1 Subunit)
0 (SFRP4 protein, human)
0 (Proto-Oncogene Proteins)
0 (RUNX2 protein, human)
SCR Disease Name: Pyle disease
تواريخ الأحداث: Date Created: 20231218 Date Completed: 20240307 Latest Revision: 20240409
رمز التحديث: 20240410
DOI: 10.1111/cge.14474
PMID: 38108099
قاعدة البيانات: MEDLINE
الوصف
تدمد:1399-0004
DOI:10.1111/cge.14474