A case report of T-box 1 mutation causing phenotypic features of chromosome 22q11.2 deletion syndrome
Abstract Background The heterozygous microdeletion of chromosome 22q11.2 results in a spectrum of disorders, including DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS), with phenotypic features that can include the classic triad of congenital heart disease (CHD), thymic aplasia and hypop...
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doaj-fc3fcc8ac2da44d3a407db827f4bad942020-11-25T03:30:27ZengBMCClinical Diabetes and Endocrinology2055-82602019-08-01511410.1186/s40842-019-0087-6A case report of T-box 1 mutation causing phenotypic features of chromosome 22q11.2 deletion syndromeRaad A. Haddad0Gregory A. Clines1Jennifer A. Wyckoff2Division of Metabolism, Endocrinology, and Diabetes (MEND), Department of Internal Medicine, University of MichiganDivision of Metabolism, Endocrinology, and Diabetes (MEND), Department of Internal Medicine, University of MichiganDivision of Metabolism, Endocrinology, and Diabetes (MEND), Department of Internal Medicine, University of MichiganAbstract Background The heterozygous microdeletion of chromosome 22q11.2 results in a spectrum of disorders, including DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS), with phenotypic features that can include the classic triad of congenital heart disease (CHD), thymic aplasia and hypoparathyroidism. Such microdeletions are usually detectable by fluorescence in situ hybridization (FISH). Case presentation We report a case of a twenty-three year-old female who presented with clinical features of chromosome 22q11.2 deletion syndrome including cardiac anomalies, hypoparathyroidism and dysmorphic facial features. FISH did not reveal a 22q11.2 microdeletion. Further genetic analysis showed T box-1 (TBX1) heterozygous mutation. Conclusions The TBX1 gene plays a significant role in the development of fourth pharyngeal arch structures. Mutations of TBX1, which is found at chromosome 22q11.21 can be responsible for the development of syndromes classically associated with chromosome 22q11.2 deletions. This case emphasizes that the TBX1 gene, among other genes, can be responsible for the developmental anomalies seen in these syndromes.http://link.springer.com/article/10.1186/s40842-019-0087-622q11.2 deletionDiGeorge syndromeHypoparathyroidismHypocalcemia |
collection |
DOAJ |
language |
English |
format |
Article |
sources |
DOAJ |
author |
Raad A. Haddad Gregory A. Clines Jennifer A. Wyckoff |
spellingShingle |
Raad A. Haddad Gregory A. Clines Jennifer A. Wyckoff A case report of T-box 1 mutation causing phenotypic features of chromosome 22q11.2 deletion syndrome Clinical Diabetes and Endocrinology 22q11.2 deletion DiGeorge syndrome Hypoparathyroidism Hypocalcemia |
author_facet |
Raad A. Haddad Gregory A. Clines Jennifer A. Wyckoff |
author_sort |
Raad A. Haddad |
title |
A case report of T-box 1 mutation causing phenotypic features of chromosome 22q11.2 deletion syndrome |
title_short |
A case report of T-box 1 mutation causing phenotypic features of chromosome 22q11.2 deletion syndrome |
title_full |
A case report of T-box 1 mutation causing phenotypic features of chromosome 22q11.2 deletion syndrome |
title_fullStr |
A case report of T-box 1 mutation causing phenotypic features of chromosome 22q11.2 deletion syndrome |
title_full_unstemmed |
A case report of T-box 1 mutation causing phenotypic features of chromosome 22q11.2 deletion syndrome |
title_sort |
case report of t-box 1 mutation causing phenotypic features of chromosome 22q11.2 deletion syndrome |
publisher |
BMC |
series |
Clinical Diabetes and Endocrinology |
issn |
2055-8260 |
publishDate |
2019-08-01 |
description |
Abstract Background The heterozygous microdeletion of chromosome 22q11.2 results in a spectrum of disorders, including DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS), with phenotypic features that can include the classic triad of congenital heart disease (CHD), thymic aplasia and hypoparathyroidism. Such microdeletions are usually detectable by fluorescence in situ hybridization (FISH). Case presentation We report a case of a twenty-three year-old female who presented with clinical features of chromosome 22q11.2 deletion syndrome including cardiac anomalies, hypoparathyroidism and dysmorphic facial features. FISH did not reveal a 22q11.2 microdeletion. Further genetic analysis showed T box-1 (TBX1) heterozygous mutation. Conclusions The TBX1 gene plays a significant role in the development of fourth pharyngeal arch structures. Mutations of TBX1, which is found at chromosome 22q11.21 can be responsible for the development of syndromes classically associated with chromosome 22q11.2 deletions. This case emphasizes that the TBX1 gene, among other genes, can be responsible for the developmental anomalies seen in these syndromes. |
topic |
22q11.2 deletion DiGeorge syndrome Hypoparathyroidism Hypocalcemia |
url |
http://link.springer.com/article/10.1186/s40842-019-0087-6 |
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