Extending the Phenotype and Identification of a Novel Candidate Gene for Immunodeficiency in 5q11 Microdeletion Syndrome
Array CGH has led to the delineation of innumerable microdeletion syndromes. We present a patient with a 7-Mb deletion at 5q11.2 with previously unreported features, such as immunodeficiency, asymmetry of hands and feet, joint laxity, and agenesis of corpus callosum. The clinical features of this patient are compared with 13 patients reported previously. A common critical region (CCR) of 1.4 Mb (54-55.4 Mb) is defined in all cases including the present one. Of the 14 genes present in CCR, IL6ST is proposed to be the candidate gene for immunodeficiency observed in some of these patients. IL6ST encodes gp130, a signal transduction protein for various interleukins and cytokines. It is involved in the generation of both T and B lymphocytes as well as the production of acute-phase reactants. Microdeletion 5q11.2 should be considered as a recognisable syndrome based on the common phenotype and the novel features described.
| Medienart: |
E-Artikel |
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| Erscheinungsjahr: |
2019 |
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| Erschienen: |
2019 |
| Enthalten in: |
Zur Gesamtaufnahme - volume:9 |
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| Enthalten in: |
Molecular syndromology - 9(2019), 6 vom: 01. Jan., Seite 312-318 |
| Sprache: |
Englisch |
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| Beteiligte Personen: |
Arora, Veronica [VerfasserIn] |
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| Links: |
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| Themen: |
5q11 microdeletion syndrome |
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| Anmerkungen: |
Date Revised 29.09.2020 published: Print-Electronic Citation Status PubMed-not-MEDLINE |
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| doi: |
10.1159/000494995 |
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| funding: |
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| Förderinstitution / Projekttitel: |
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| PPN (Katalog-ID): |
NLM294249087 |
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| 500 | |a Citation Status PubMed-not-MEDLINE | ||
| 520 | |a Array CGH has led to the delineation of innumerable microdeletion syndromes. We present a patient with a 7-Mb deletion at 5q11.2 with previously unreported features, such as immunodeficiency, asymmetry of hands and feet, joint laxity, and agenesis of corpus callosum. The clinical features of this patient are compared with 13 patients reported previously. A common critical region (CCR) of 1.4 Mb (54-55.4 Mb) is defined in all cases including the present one. Of the 14 genes present in CCR, IL6ST is proposed to be the candidate gene for immunodeficiency observed in some of these patients. IL6ST encodes gp130, a signal transduction protein for various interleukins and cytokines. It is involved in the generation of both T and B lymphocytes as well as the production of acute-phase reactants. Microdeletion 5q11.2 should be considered as a recognisable syndrome based on the common phenotype and the novel features described | ||
| 650 | 4 | |a Journal Article | |
| 650 | 4 | |a 5q11 microdeletion syndrome | |
| 650 | 4 | |a Common critical region | |
| 650 | 4 | |a IL6ST | |
| 650 | 4 | |a Immunodeficiency | |
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| 700 | 1 | |a Bijarnia, Sunita |e verfasserin |4 aut | |
| 700 | 1 | |a Lall, Meena |e verfasserin |4 aut | |
| 700 | 1 | |a Joshi, Anju |e verfasserin |4 aut | |
| 700 | 1 | |a Dua-Puri, Ratna |e verfasserin |4 aut | |
| 700 | 1 | |a Arora, Umang |e verfasserin |4 aut | |
| 700 | 1 | |a Verma, Ishwar |e verfasserin |4 aut | |
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