PMID- 16595601
OWN - NLM
STAT- MEDLINE
DCOM- 20060629
LR  - 20131106
IS  - 0021-972X (Print)
IS  - 0021-972X (Linking)
VI  - 91
IP  - 6
DP  - 2006 Jun
TI  - antiphospholipid antibodies syndrome associated with hyperhomocysteinemia related 
      to MTHFR Gene C677T and A1298C heterozygous mutations in a young man with 
      idiopathic hypoparathyroidism (DiGeorge syndrome).
PG  - 2021-6
AB  - CONTEXT: Antiphospholipid syndrome (APS, or Hughes' syndrome) is a systemic 
      autoimmune disorder characterized by antiphospholipid antibody positivity, which 
      may lead to arterial and/or venous thrombosis. Hyperhomocysteinemia (HHcy), 
      variously associated with 5,10-methylene tetrahydrofolate reductase (MTHFR) gene 
      point mutations, is also implicated in thromboembolic events. The association of 
      APS and HHcy has already been described but has never been reported in patients 
      with DiGeorge syndrome (DGS), the most common contiguous-gene deletion syndrome 
      (22q11.2) in humans, whose phenotype conversely includes bleeding disorders. DATA 
      ACQUISITION: In this report, we present the case of a 19-yr-old patient with a 
      past medical history of learning disability and obesity affected with idiopathic 
      hypoparathyroidism, metabolic syndrome, and diffuse vasculitis disorders. He was 
      referred to our endocrinology clinic for the management of severe hypocalcemia. 
      At the time of presentation he had been taking antiepileptic drugs for 2 wk and 
      displayed facial dysmorphism (short neck, micrognathia, a small mouth, 
      hypoplastic nasal alae, eye hypertelorism, and low-set simple ears). DGS was 
      suspected and confirmed by both fluorescence in situ hybridization analysis and 
      single nucleotide polymorphism-array analysis, which revealed contiguous gene 
      microdeletion of the chromosome 22q11.2 in the minimal DiGeorge critical region, 
      specifically at the gene locus D22S75 (N25). CONCLUSIONS: APS, revealed by 
      anti-beta-2-glycoprotein and anti-prothrombin antibodies positivity, and moderate 
      HHcy related to heterozygous C677T and A1298C point mutations of the MTHFR gene 
      were identified as a possible cause of thrombotic disorder responsible for the 
      widespread presence of cutaneous and cerebral lesions.
FAU - Nucera, Carmelo
AU  - Nucera C
AD  - Sezione di Endocrinologia quarto (IV) Piano Pad. H., Dipartimento 
      Clinico-Sperimentale di Medicina e Farmacologia, University of Messina., A.O.U. 
      Policlinico "G. Martino", Via Consolare Valeria 1, 98100 Messina, Italy.
FAU - Vaccaro, Mario
AU  - Vaccaro M
FAU - Moleti, Mariacarla
AU  - Moleti M
FAU - Priolo, Carmen
AU  - Priolo C
FAU - Tortorella, Gaetano
AU  - Tortorella G
FAU - Angioni, Adriano
AU  - Angioni A
FAU - Ientile, Riccardo
AU  - Ientile R
FAU - Violi, Maria Antonia
AU  - Violi MA
FAU - Loda, Massimo
AU  - Loda M
FAU - Trimarchi, Francesco
AU  - Trimarchi F
FAU - Vermiglio, Francesco
AU  - Vermiglio F
LA  - eng
PT  - Case Reports
PT  - Journal Article
DEP - 20060404
PL  - United States
TA  - J Clin Endocrinol Metab
JT  - The Journal of clinical endocrinology and metabolism
JID - 0375362
RN  - EC 1.5.1.20 (Methylenetetrahydrofolate Reductase (NADPH2))
SB  - IM
MH  - Adult
MH  - Antiphospholipid Syndrome/*etiology
MH  - DiGeorge Syndrome/*genetics/immunology/pathology
MH  - Humans
MH  - Hyperhomocysteinemia/*etiology
MH  - Hypoparathyroidism/*genetics
MH  - Male
MH  - Methylenetetrahydrofolate Reductase (NADPH2)/*genetics
MH  - *Mutation
EDAT- 2006/04/06 09:00
MHDA- 2006/06/30 09:00
CRDT- 2006/04/06 09:00
PHST- 2006/04/06 09:00 [pubmed]
PHST- 2006/06/30 09:00 [medline]
PHST- 2006/04/06 09:00 [entrez]
AID - jc.2005-2782 [pii]
AID - 10.1210/jc.2005-2782 [doi]
PST - ppublish
SO  - J Clin Endocrinol Metab. 2006 Jun;91(6):2021-6. doi: 10.1210/jc.2005-2782. Epub 
      2006 Apr 4.