PMID- 31428446
OWN - NLM
STAT- PubMed-not-MEDLINE
LR  - 20220409
IS  - 2055-8260 (Print)
IS  - 2055-8260 (Electronic)
IS  - 2055-8260 (Linking)
VI  - 5
DP  - 2019
TI  - A case report of T-box 1 mutation causing phenotypic features of chromosome 
      22q11.2 deletion syndrome.
PG  - 13
LID - 10.1186/s40842-019-0087-6 [doi]
LID - 13
AB  - 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.
FAU - Haddad, Raad A
AU  - Haddad RA
AD  - Division of Metabolism, Endocrinology, and Diabetes (MEND), Department of 
      Internal Medicine, University of Michigan, 24 Frank Lloyd Wright, G-1500, Ann 
      Arbor, MI 48106 USA. ISNI: 0000000086837370. GRID: grid.214458.e
FAU - Clines, Gregory A
AU  - Clines GA
AD  - Division of Metabolism, Endocrinology, and Diabetes (MEND), Department of 
      Internal Medicine, University of Michigan, 24 Frank Lloyd Wright, G-1500, Ann 
      Arbor, MI 48106 USA. ISNI: 0000000086837370. GRID: grid.214458.e
FAU - Wyckoff, Jennifer A
AU  - Wyckoff JA
AD  - Division of Metabolism, Endocrinology, and Diabetes (MEND), Department of 
      Internal Medicine, University of Michigan, 24 Frank Lloyd Wright, G-1500, Ann 
      Arbor, MI 48106 USA. ISNI: 0000000086837370. GRID: grid.214458.e
LA  - eng
PT  - Case Reports
DEP - 20190813
PL  - England
TA  - Clin Diabetes Endocrinol
JT  - Clinical diabetes and endocrinology
JID - 101669619
PMC - PMC6693207
OTO - NOTNLM
OT  - 22q11.2 deletion
OT  - DiGeorge syndrome
OT  - Hypocalcemia
OT  - Hypoparathyroidism
COIS- Competing interestsThe authors declare that they have no competing interests.
EDAT- 2019/08/21 06:00
MHDA- 2019/08/21 06:01
PMCR- 2019/08/13
CRDT- 2019/08/21 06:00
PHST- 2019/06/16 00:00 [received]
PHST- 2019/07/30 00:00 [accepted]
PHST- 2019/08/21 06:00 [entrez]
PHST- 2019/08/21 06:00 [pubmed]
PHST- 2019/08/21 06:01 [medline]
PHST- 2019/08/13 00:00 [pmc-release]
AID - 87 [pii]
AID - 10.1186/s40842-019-0087-6 [doi]
PST - epublish
SO  - Clin Diabetes Endocrinol. 2019 Aug 13;5:13. doi: 10.1186/s40842-019-0087-6. 
      eCollection 2019.