Clinical diagnosis and genetic counseling of atypical ataxia‑telangiectasia in a Chinese family

Molecular Medicine Reports
Jiangxia CaoXuemei Tan

Abstract

Ataxia‑telangiectasia (A‑T) is an autosomal recessive chromosome breakage disorder caused by mutations in the ATM serine/threonine kinase (ATM) gene. Typically, it presents in early childhood with progressive cerebellar dysfunction, accompanied by immunodeficiency and oculocutaneous telangiectasia. In the present study, the clinical and genetic findings of a Chinese family affected with A‑T in two live siblings, the proband (II‑2) and his elder brother (II‑1), as well as a fetus (II‑3) were reported. General health, clinical neurological, electrophysiological (motor and sensory nerve conduction) and magnetic resonance imaging evaluations revealed that patients II‑1 and II‑2 had similar symptoms of ataxia, dysarthria, conjunctival hyperemia and elevated serum α‑fetoprotein, whereas patient II‑1 had earlier A‑T onset at 2 years old and more serious problems with movement and intelligence. Targeted sequencing followed by Sanger sequencing revealed that these two patients carried the compound heterozygotes of a novel nonsense mutation c.5170G>T (p.Glu1724Ter) and a known nonsense mutation c.748C>T (p.Arg250Ter) in the ATM gene. Each mutation was inherited from an asymptomatic parent, which therefore confirmed the diagnosis of A‑T. ...Continue Reading

References

Sep 1, 1979·Archives of Disease in Childhood·J M Jason, E W Gelfand
Jan 1, 1990·Annals of Neurology·D R Cornblath
Nov 25, 1972·Lancet·T A Waldmann, K R McIntire
Jan 1, 1994·International Journal of Radiation Biology·A M TaylorS Thacker
Jan 1, 1997·Annual Review of Immunology·M F Lavin, Y Shiloh
Apr 29, 1998·American Journal of Human Genetics·S GiladA Bar-Shira
May 20, 1999·American Journal of Human Genetics·S N TeraokaP Concannon
Aug 18, 1999·Proceedings of the National Academy of Sciences of the United States of America·C BarlowR L Levine
May 19, 2000·American Journal of Medical Genetics·A Li, M Swift
May 10, 2001·FASEB Journal : Official Publication of the Federation of American Societies for Experimental Biology·M YanP K Wong
Jan 29, 2003·Human Mutation·Carolyn H BuzinSteve S Sommer
May 13, 2003·Neuroradiology·F TavaniP Bingham
Jul 29, 2004·DNA Repair·Helen H Chun, Richard A Gatti
Oct 29, 2004·The EMBO Journal·Aaron A GoodarziKum Kum Khanna
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Dec 15, 2010·The Journal of Biological Chemistry·Sergei V KozlovMartin F Lavin
Nov 11, 2011·European Journal of Human Genetics : EJHG·Virginie JacqueminMarc-Henri Stern
May 3, 2014·Journal of Clinical Immunology·Matan KrausRaz Somech
Mar 6, 2015·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Sue RichardsUNKNOWN ACMG Laboratory Quality Assurance Committee
May 31, 2016·European Journal of Medical Genetics·M H D SchoenakerJ L Loeffen
Aug 22, 2017·Therapeutic Advances in Respiratory Disease·Yanling XuJie Zhang

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Citations

Jul 10, 2019·International Journal of Molecular Sciences·Ambra CampofeliceIvana Pibiri

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Methods Mentioned

BETA
flow cytometry
Exome Sequencing

Software Mentioned

PolyPhen -
SIFT

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