دورية أكاديمية
Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome.
| العنوان: | Quantitative facial phenotyping for Koolen-de Vries and 22q11.2 deletion syndrome. |
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| المؤلفون: | Dingemans AJM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Stremmelaar DE; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., van der Donk R; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Vissers LELM; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands., Rump P; Department of Genetics, University Medical Center Groningen, University of Groningen, Groningen, The Netherlands., Hehir-Kwa JY; Princess Máxima Center for Pediatric Oncology, Bilthoven, The Netherlands., de Vries BBA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen, The Netherlands. Bert.deVries@radboudumc.nl. |
| المصدر: | European journal of human genetics : EJHG [Eur J Hum Genet] 2021 Sep; Vol. 29 (9), pp. 1418-1423. Date of Electronic Publication: 2021 Feb 18. |
| نوع المنشور: | Journal Article; Research Support, Non-U.S. Gov't |
| اللغة: | English |
| بيانات الدورية: | Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: <2003->: London : Nature Publishing Group Original Publication: Basel ; New York : Karger, [1992- |
| مواضيع طبية MeSH: | Phenotype*, 22q11 Deletion Syndrome/*pathology , Abnormalities, Multiple/*pathology , Face/*abnormalities , Intellectual Disability/*pathology, 22q11 Deletion Syndrome/epidemiology ; 22q11 Deletion Syndrome/genetics ; Abnormalities, Multiple/epidemiology ; Abnormalities, Multiple/genetics ; Adolescent ; Adult ; Age Factors ; Child ; Child, Preschool ; Chromosome Deletion ; Chromosomes, Human, Pair 17/genetics ; Diagnosis, Differential ; Female ; Humans ; Infant ; Intellectual Disability/epidemiology ; Intellectual Disability/genetics ; Male ; Nuclear Proteins/genetics ; Sex Factors |
| مستخلص: | The Koolen-de Vries syndrome (KdVS) is a multisystem syndrome with variable facial features caused by a 17q21.31 microdeletion or KANSL1 truncating variant. As the facial gestalt of KdVS has resemblance with the gestalt of the 22q11.2 deletion syndrome (22q11.2DS), we assessed whether our previously described hybrid quantitative facial phenotyping algorithm could distinguish between these two syndromes, and whether there is a facial difference between the molecular KdVS subtypes. We applied our algorithm to 2D photographs of 97 patients with KdVS (78 microdeletions, 19 truncating variants (likely) causing KdVS) and 48 patients with 22q11.2DS as well as age, gender and ethnicity matched controls with intellectual disability (n = 145). The facial gestalts of KdVS and 22q11.2DS were both recognisable through significant clustering by the hybrid model, yet different from one another (p = 7.5 × 10 -10 and p = 0.0052, respectively). Furthermore, the facial gestalts of KdVS caused by a 17q21.31 microdeletion and KANSL1 truncating variant (likely) causing KdVS were indistinguishable (p = 0.981 and p = 0.130). Further application to three patients with a variant of unknown significance in KANSL1 showed that these faces do not match KdVS. Our data highlight quantitative facial phenotyping not only as a powerful tool to distinguish syndromes with overlapping facial dysmorphisms but also to establish pathogenicity of variants of unknown clinical significance. (© 2021. The Author(s), under exclusive licence to European Society of Human Genetics.) |
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| معلومات مُعتمدة: | EP-C-16-015 United States EPA EPA |
| المشرفين على المادة: | 0 (NSL1 protein, human) 0 (Nuclear Proteins) |
| SCR Disease Name: | Chromosome 17q21.31 Deletion Syndrome |
| تواريخ الأحداث: | Date Created: 20210219 Date Completed: 20220323 Latest Revision: 20220902 |
| رمز التحديث: | 20231215 |
| مُعرف محوري في PubMed: | PMC8440607 |
| DOI: | 10.1038/s41431-021-00824-x |
| PMID: | 33603161 |
| قاعدة البيانات: | MEDLINE |
Find this article in full text from Springer Verlag. 
Full Text Finder | تدمد: | 1476-5438 |
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| DOI: | 10.1038/s41431-021-00824-x |