PubTransformer

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PMID- 28774260
OWN - NLM
STAT- MEDLINE
DA  - 20170804
DCOM- 20170824
LR  - 20170824
IS  - 1471-2350 (Electronic)
IS  - 1471-2350 (Linking)
VI  - 18
IP  - 1
DP  - 2017 Aug 03
TI  - Large intragenic deletion of CDC73 (exons 4-10) in a three-generation
      hyperparathyroidism-jaw tumor (HPT-JT) syndrome family.
PG  - 83
LID - 10.1186/s12881-017-0445-0 [doi]
AB  - BACKGROUND: Inactivating mutations of CDC73 cause Hyperparathyroidism-Jaw Tumour 
      syndrome (HPT-JT), Familial Isolated Hyperparathyroidism (FIHP) and sporadic
      parathyroid carcinoma. We conducted CDC73 mutation analysis in an HPT-JT family
      and confirm carrier status of the proband's daughter. METHODS: The proband had
      primary hyperparathyroidism (parathyroid carcinoma) and uterine leiomyomata. Her 
      father and daughter had hyperparathyroidism (parathyroid adenoma) but no other
      manifestations of HPT-JT. CDC73 mutation analysis (sequencing of all 17 exons)
      and whole-genome copy number variation (CNV) analysis was done on leukocyte DNA
      of the three affecteds as well as the proband's unaffected sister. RESULTS: A
      novel deletion of exons 4 to 10 of CDC73 was detected by CNV analysis in the
      three affecteds. A novel insertion in the 5'UTR (c.-4_-11insG) that co-segregated
      with the deletion was identified. By in vitro assay the 5'UTR insertion was shown
      to significantly impair the expression of the parafibromin protein. Screening for
      the mutated CDC73 confirmed carrier status in the proband's daughter and the
      biochemistry and ultrasonography led to pre-emptive surgery and resolution of the
      hyperparathyroidism. CONCLUSIONS: A novel gross deletion mutation in CDC73 was
      identified in a three-generation HPT-JT family emphasizing the importance of
      including screening for large deletions in the molecular diagnostic protocol.
FAU - Guarnieri, Vito
AU  - Guarnieri V
AUID- ORCID: http://orcid.org/0000-0002-5500-8558
AD  - Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni
      Rotondo, Italy. [email protected]
FAU - Seaberg, Raewyn M
AU  - Seaberg RM
AD  - Department of Otolaryngology - Head and Neck Surgery, University of Toronto,
      Toronto, ON, Canada.
FAU - Kelly, Catherine
AU  - Kelly C
AD  - Department of Medicine, University of Toronto, Toronto, ON, Canada.
AD  - Division of Endocrinology, Women's College Hospital, Toronto, ON, Canada.
FAU - Jean Davidson, M
AU  - Jean Davidson M
AD  - Department of Otolaryngology, Head & Neck Surgery, Sunnybrook Health Sciences
      Centre, Toronto, ON, Canada.
FAU - Raphael, Simon
AU  - Raphael S
AD  - Department of Anatomic Pathology, Sunnybrook Health Sciences Centre, Toronto, ON,
      Canada.
FAU - Shuen, Andrew Y
AU  - Shuen AY
AD  - Departments of Laboratory Medicine and Pathobiology, Medicine and Genetics,
      University of Toronto, Toronto, ON, Canada.
FAU - Baorda, Filomena
AU  - Baorda F
AD  - Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni
      Rotondo, Italy.
FAU - Palumbo, Orazio
AU  - Palumbo O
AD  - Medical Genetics, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni
      Rotondo, Italy.
FAU - Scillitani, Alfredo
AU  - Scillitani A
AD  - Endocrinology, IRCCS Casa Sollievo della Sofferenza Hospital, San Giovanni
      Rotondo, Italy.
FAU - Hendy, Geoffrey N
AU  - Hendy GN
AD  - Metabolic Disorders and Complications, McGill University Health Centre-Research
      Institute, Montreal, QC, Canada.
AD  - Departments of Medicine, Physiology and Human Genetics, McGill University,
      Montreal, QC, Canada.
FAU - Cole, David E C
AU  - Cole DEC
AD  - Departments of Laboratory Medicine and Pathobiology, Medicine and Genetics,
      University of Toronto, Toronto, ON, Canada.
LA  - eng
PT  - Journal Article
DEP - 20170803
PL  - England
TA  - BMC Med Genet
JT  - BMC medical genetics
JID - 100968552
RN  - 0 (5' Untranslated Regions)
RN  - 0 (CDC73 protein, human)
RN  - 0 (Tumor Suppressor Proteins)
RN  - 9007-49-2 (DNA)
RN  - Hyperparathyroidism 2
SB  - IM
MH  - 5' Untranslated Regions
MH  - Adenoma/*genetics/pathology
MH  - Adolescent
MH  - Adult
MH  - Alleles
MH  - Animals
MH  - Base Sequence
MH  - Child
MH  - DNA/chemistry/isolation & purification/metabolism
MH  - DNA Copy Number Variations
MH  - Exons
MH  - Female
MH  - Fibroma/*genetics/pathology
MH  - Genetic Testing
MH  - HEK293 Cells
MH  - Humans
MH  - Hyperparathyroidism/*genetics/pathology
MH  - Jaw Neoplasms/*genetics/pathology
MH  - Leukocytes/metabolism
MH  - Male
MH  - Middle Aged
MH  - Pedigree
MH  - Sequence Alignment
MH  - *Sequence Deletion
MH  - Tumor Suppressor Proteins/*genetics/metabolism
MH  - Young Adult
PMC - PMC5543551
OTO - NOTNLM
OT  - CDC73
OT  - Germline
OT  - HPT-JT syndrome
OT  - Parathyroid carcinoma
EDAT- 2017/08/05 06:00
MHDA- 2017/08/25 06:00
CRDT- 2017/08/05 06:00
PHST- 2016/10/20 [received]
PHST- 2017/07/26 [accepted]
AID - 10.1186/s12881-017-0445-0 [doi]
AID - 10.1186/s12881-017-0445-0 [pii]
PST - epublish
SO  - BMC Med Genet. 2017 Aug 3;18(1):83. doi: 10.1186/s12881-017-0445-0.