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Search for inherited gene mutations in all Journal Watch editions
Physician-authored summaries on the latest research on inherited gene mutations, editorials on inherited gene mutations, and perspectives on inherited gene mutations - drawn from the top medical journals.
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You searched for: inherited gene mutations
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Gene for Dilated Cardiomyopathy Linked with AFib
- March 25, 2005
- JoAnne M. Foody, MD
- Cardiology
In the quest to elucidate the genetics of idiopathic dilated cardiomyopathy (DCM), researchers have identified a novel gene for DCM.- Reviewing:
- Olson TM et al., JAMA 2005 Jan 26; 293:447-54. Adler E and Fuster V., JAMA 2005 Jan 26; 293:491-3.
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Pancreatic Cancer and Gene Mutations for Lynch Syndrome
- November 13, 2009
- Stuart Sherman, MD
- Gastroenterology
Compared with the general population, families with mutations had significantly greater cancer risk.- Reviewing:
- Kastrinos F et al., JAMA 2009 Oct 28; 302:1790.
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Surprising Connections
- January 28, 2011
- Kenneth Y. Tsai, MD, PhD
- Dermatology
Mutations in genes related to gamma-secretase function are associated with hidradenitis suppurativa — and with Alzheimer disease.- Reviewing:
- Wang B et al., Science 2010 Nov 19; 330:1065.
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Another Gene Implicated in Arrhythmogenic RV Dysplasia
- April 27, 2006
- Hugh Calkins, MD
- Cardiology
Arrhythmogenic right ventricular dysplasia is often due to alterations in the desmosome complex.- Reviewing:
- Pilichou K et al., Circulation 2006 Mar 7; 113:1171-9.
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Inherited Thrombophilia Polymorphisms and Pregnancy Outcomes Free
- February 11, 2010
- Ann J. Davis, MD
- Women's Health
Asymptomatic carriers of inherited thrombophilias were not at excess risk for several adverse pregnancy outcomes.- Reviewing:
- Said JM et al., Obstet Gynecol 2010 Jan; 115:5. Branch DW., Obstet Gynecol 2010 Jan; 115:2.
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Congenital Neutropenia and G6PC3 Mutations
- January 20, 2009
- David Green, MD, PhD
- Oncology and Hematology
Autosomal recessive mutations were identified in children with severe congenital neutropenia.- Reviewing:
- Boztug K et al., N Engl J Med 2009 Jan 1; 360:32. Dale DC and Link DC., N Engl J Med 2009 Jan 1; 360:3.
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Can Sinus Bradycardia Be Inherited?
- March 9, 2006
- Hugh Calkins, MD
- Cardiology
An Italian study has implicated a mutation in the gene that encodes the cardiac pacemaker channel.- Reviewing:
- Milanesi R et al., N Engl J Med 2006 Jan 12; 354:151-7.
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When to Test for Mitofusin-2 Mutations in Patients with Axonal Charcot-Marie-Tooth Disease
- June 28, 2011
- Michael Benatar, MD, MS, PhD
- Neurology
New findings suggest that genetic testing for mitofusin-2 mutations is indicated in patients with early-onset, severe, predominantly motor, axonal neuropathy, even in the absence of a family history.- Reviewing:
- Feely SME et al., Neurology 2011 May 17; 76:1690.
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Genetic Basis of an Autosomal Recessive Small-Vessel Disease of the Brain
- June 23, 2009
- Anand Viswanathan, MD, PhD
- Neurology
A discovery opens the door to understanding the genetic mechanisms underlying small-vessel arteriopathies.- Reviewing:
- Hara K et al., N Engl J Med 2009 Apr 23; 360:1729.
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Probing the Relation Between the PRODH Gene and Psychiatric Illness
- May 4, 2005
- Barbara Geller, MD
- Psychiatry
Two research groups recently examined how polymorphisms of the PRODH gene on chromosome 22q11 relate to proline oxidase expression, to plasma levels of proline, and . . .- Reviewing:
- Jacquet H et al., Mol Psychiatry 2005 May; 10:479-85. Bender HU et al., Am J Hum Genet 2005 Mar; 76:409-20.
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Mitochondrial Mutations Make Malformed Manes Free
- February 21, 2007
- Lowell A. Goldsmith, MD
- Dermatology
In Björnstad syndrome, mutations in the BCS1L gene lead to abnormal hair formation.- Reviewing:
- Hinson JT et al., N Engl J Med 2007 Feb 22; 356:809-19.
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Fragile X Mutations Might Predispose to Turner Syndrome
- December 9, 2009
- Judith G. Hall, OC, MD
- Pediatrics and Adolescent Medicine
Females with fragile X full mutations are at risk for mosaic Turner syndrome.- Reviewing:
- Dobkin C et al., Am J Med Genet A 2009 Oct; 149A:2152.
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BRCA1 and BRCA2 Mutations and Prognosis in Ovarian Cancer
- February 21, 2012
- Virginia Kaklamani, MD, DSc
- Oncology and Hematology
Five-year overall survival rate was higher in carriers than noncarriers.- Reviewing:
- Bolton KL et al., JAMA 2012 Jan 25; 307:382. Hyman DM and Spriggs DR., JAMA 2012 Jan 25; 307:408.
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Genetics of Autism: Escalating Complexities
- April 1, 2008
- Isabelle Rapin, MD
- Neurology
A rare mutation explained about 1% of autism cases in three studies, but de novo mutation and inheritance patterns preclude easy clinical applications.- Reviewing:
- Weiss LA et al., N Engl J Med 2008 Feb 14; 358:667. Kumar RA et al., Hum Mol Genet 2008 Feb 15; 17:628. Sebat J et al., Science 2007 Apr 20; 316:445.
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Genetics of Parkinson Disease Is Complex
- September 11, 2007
- Stewart A. Factor, DO
- Neurology
Much more remains to be understood about the pathogenesis of PD before genetic testing can be considered definitive.- Reviewing:
- Klein C et al., Lancet Neurol 2007 Jul; 6:652-62.
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Mitochondrial Encephalomyopathy: Know Your TCA Cycle?
- June 12, 2007
- Edward H. Koo, MD
- Neurology
Two reports expand our understanding of mitochondrial disease associated with nuclear DNA mutations — but questions remain as to the mechanism.- Reviewing:
- Ostergaard E et al., Brain 2007 Mar; 130:853-61. Carrozzo R et al., Brain 2007 Mar; 130:862-74.
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Cowden and Cowden-Like Syndrome: Tales from the Other Strand
- January 28, 2011
- Kenneth Y. Tsai, MD, PhD
- Dermatology
Aberrant hypermethylation of KILLIN could explain the development of Cowden syndrome and Cowden-like syndrome in patients without PTEN mutations.- Reviewing:
- Bennett KL et al., JAMA 2010 Dec 22/29; 304:2724. Jelovac D and Park BH., JAMA 2010 Dec 22/29; 304:2744.
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Frontotemporal Dementia Genetics: The Show Is Not Over
- April 13, 2010
- William W. Seeley, MD
- Neurology
A large, important heritability and genetics study suggests that some genes for frontotemporal dementia remain to be identified.- Reviewing:
- Rohrer JD et al., Neurology 2009 Nov 3; 73:1451.
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Bilateral Salpingo-Oophorectomy in Women with BRCA Mutations
- February 19, 2009
- Andrew M. Kaunitz, MD
- Women's Health
BSO is effective in lowering risk for breast, ovarian, and tubal cancers.
CME Exam- Reviewing:
- Rebbeck TR et al., J Natl Cancer Inst 2009 Jan 21; 101:80. Greene MH and Mai PL., J Natl Cancer Inst 2009 Jan 21; 101:70.
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BRCA1 Mutations: Not Just for Ashkenazi Jews
- February 21, 2008
- Wendy S. Biggs, MD
- Women's Health
The prevalence of deleterious BRCA1 mutations varied with racial and ethnic group.- Reviewing:
- John EM et al., JAMA 2007 Dec 26; 298:2869.
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