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Cascade Fumarate Hydratase mutation screening allows early detection of kidney tumour: a case report.

Abstract Fumarate hydratase (FH) deficiency is a rare autosomal recessive disorder which results in a major defect in cellular metabolism. It presents in infancy with progressive encephalopathy, hypotonia, seizures and failure to thrive and is often fatal in childhood. It is caused by mutations in the FH gene (1q42.1) that result in deficiency of the citric acid cycle enzyme fumarate hydratase, resulting in accumulation of fumaric acid. Heterozygous germline mutations in the FH gene predispose to an aggressive autosomal dominant inherited early-onset kidney cancer syndrome: hereditary leiomyomatosis and renal cell cancer (HLRCC).
PMID
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Authors

Mayor MeshTerms
Keywords

Case report

Fumarate hydratase deficiency

Hereditary cancer

Hereditary leiomyomatosis and renal cell cancer (HLRCC)

Journal Title bmc medical genetics
Publication Year Start




PMID- 28747166
OWN - NLM
STAT- MEDLINE
DA  - 20170727
DCOM- 20170802
LR  - 20170803
IS  - 1471-2350 (Electronic)
IS  - 1471-2350 (Linking)
VI  - 18
IP  - 1
DP  - 2017 Jul 26
TI  - Cascade Fumarate Hydratase mutation screening allows early detection of kidney
      tumour: a case report.
PG  - 79
LID - 10.1186/s12881-017-0436-1 [doi]
AB  - BACKGROUND: Fumarate hydratase (FH) deficiency is a rare autosomal recessive
      disorder which results in a major defect in cellular metabolism. It presents in
      infancy with progressive encephalopathy, hypotonia, seizures and failure to
      thrive and is often fatal in childhood. It is caused by mutations in the FH gene 
      (1q42.1) that result in deficiency of the citric acid cycle enzyme fumarate
      hydratase, resulting in accumulation of fumaric acid. Heterozygous germline
      mutations in the FH gene predispose to an aggressive autosomal dominant inherited
      early-onset kidney cancer syndrome: hereditary leiomyomatosis and renal cell
      cancer (HLRCC). CASE PRESENTATION: Cascade FH mutation screening enabled the
      early diagnosis of a renal tumour in an asymptomatic parent of a child with
      fumarate hydratase deficiency, resulting in timely and possibly life-saving
      treatment. CONCLUSION: While the theoretical risk of kidney cancer in parents of 
      children with recessive fumarate hydratase deficiency is well recognized, to our 
      knowledge this is the first report of a kidney tumour being detected in a parent 
      by screening performed for this indication. This underscores the importance of
      offering lifelong kidney surveillance to such parents and other heterozygous
      relatives of children born with fumarate hydratase deficiency.
FAU - Chan, Melanie M Y
AU  - Chan MMY
AUID- ORCID: http://orcid.org/0000-0003-1968-1734
AD  - Centre for Nephrology, University College London, Royal Free Hospital, London,
      UK.
FAU - Barnicoat, Angela
AU  - Barnicoat A
AD  - Northeast Thames Regional Genetics Service, Great Ormond Street Hospital for
      Children, London, UK.
FAU - Mumtaz, Faiz
AU  - Mumtaz F
AD  - Department of Urology, Royal Free Hospital, London, UK.
FAU - Aitchison, Michael
AU  - Aitchison M
AD  - Department of Urology, Royal Free Hospital, London, UK.
FAU - Side, Lucy
AU  - Side L
AD  - Northeast Thames Regional Genetics Service, Great Ormond Street Hospital for
      Children, London, UK.
FAU - Brittain, Helen
AU  - Brittain H
AD  - Northeast Thames Regional Genetics Service, Great Ormond Street Hospital for
      Children, London, UK.
FAU - Bates, Alan W H
AU  - Bates AWH
AD  - Department of Histopathology, Royal Free Hospital, London, UK.
FAU - Gale, Daniel P
AU  - Gale DP
AD  - Centre for Nephrology, University College London, Royal Free Hospital, London,
      UK. [email protected]
LA  - eng
PT  - Journal Article
DEP - 20170726
PL  - England
TA  - BMC Med Genet
JT  - BMC medical genetics
JID - 100968552
RN  - EC 4.2.1.2 (Fumarate Hydratase)
RN  - Fumaric aciduria
SB  - IM
MH  - Carcinoma, Renal Cell/diagnosis/*genetics/pathology
MH  - Early Detection of Cancer
MH  - Female
MH  - Fumarate Hydratase/*deficiency/*genetics
MH  - Genetic Predisposition to Disease
MH  - Germ-Line Mutation
MH  - Humans
MH  - Infant
MH  - Kidney Neoplasms/complications/diagnosis/*genetics/pathology
MH  - Metabolism, Inborn Errors/complications/diagnosis/*genetics/pathology
MH  - Muscle Hypotonia/complications/diagnosis/*genetics/pathology
MH  - Psychomotor Disorders/complications/diagnosis/*genetics/pathology
PMC - PMC5530463
OTO - NOTNLM
OT  - Case report
OT  - Fumarate hydratase deficiency
OT  - Hereditary cancer
OT  - Hereditary leiomyomatosis and renal cell cancer (HLRCC)
EDAT- 2017/07/28 06:00
MHDA- 2017/08/03 06:00
CRDT- 2017/07/28 06:00
PHST- 2016/09/08 [received]
PHST- 2017/07/12 [accepted]
AID - 10.1186/s12881-017-0436-1 [doi]
AID - 10.1186/s12881-017-0436-1 [pii]
PST - epublish
SO  - BMC Med Genet. 2017 Jul 26;18(1):79. doi: 10.1186/s12881-017-0436-1.