Truncating mutations in exons 20 and 21 of OFD1 can cause primary ciliary dyskinesia without associated syndromic symptoms

Journal of Medical Genetics
Zuzanna Bukowy-BierylloEwa Zietkiewicz

Abstract

Primary ciliary dyskinesia (PCD) is a motile ciliopathy, whose symptoms include airway infections, male infertility and situs inversus. Apart from the typical forms of PCD, rare syndromic PCD forms exist. Mutations of the X-linked OFD1 gene cause several syndromic ciliopathies, including oral-facial-digital syndrome type 1, Joubert syndrome type 10 (JBTS10), and Simpson-Golabi-Behmel syndrome type 2, the latter causing the X-linked syndromic form of PCD. Neurological and skeletal symptoms are characteristic for these syndromes, with their severity depending on the location of the mutation within the gene. To elucidate the role of motile cilia defects in the respiratory phenotype of PCD patients with C-terminal OFD1 mutations. Whole-exome sequencing in a group of 120 Polish PCD patients, mutation screening of the OFD1 coding sequence, analysis of motile cilia, and magnetic resonance brain imaging. Four novel hemizygous OFD1 mutations, in exons 20 and 21, were found in men with a typical PCD presentation but without severe neurological, skeletal or renal symptoms characteristic for other OFD1-related syndromes. Magnetic resonance brain imaging in two patients did not show a molar tooth sign typical for JBTS10. Cilia in the respir...Continue Reading

References

Oct 1, 1992·Archives of Disease in Childhood·K M BushbyJ A Goodship
Feb 17, 2001·American Journal of Human Genetics·M I FerranteB Franco
Feb 24, 2004·The Journal of Gene Medicine·Qing-Hai MengStephen L Hart
Aug 5, 2008·American Journal of Human Genetics·Vincent CantagrelJoseph G Gleeson
Mar 3, 2009·The Journal of Clinical Investigation·Norann A Zaghloul, Nicholas Katsanis
Oct 6, 2009·American Journal of Human Genetics·Karlien L M CoeneArjan P M de Brouwer
Oct 31, 2009·American Journal of Medical Genetics. Part C, Seminars in Medical Genetics·Marina Macca, Brunella Franco
Mar 17, 2010·Developmental Cell·Veena SinglaJeremy F Reiter
Jul 2, 2010·International Journal of Pediatric Otorhinolaryngology·Hester Y KroesDick Lindhout
Jul 10, 2010·Orphanet Journal of Rare Diseases·Francesco BrancatiEnza Maria Valente
Aug 14, 2012·Pediatric Pulmonology·Zuzanna Bukowy-BieryłłoMichał Witt
Oct 6, 2012·Clinical Genetics·C Thauvin-RobinetT Attié-Bitach
Feb 5, 2014·European Journal of Pharmacology·Evgeniya N BurgovaAnatoly F Vanin
Aug 21, 2014·European Journal of Human Genetics : EJHG·Sophie ThomasTania Attié-Bitach
Feb 27, 2016·The European Respiratory Journal·Laura BehanJane S Lucas
May 4, 2016·Cilia·Brunella Franco, Christel Thauvin-Robinet
Jun 9, 2016·Genome Biology·William McLarenFiona Cunningham
Aug 16, 2016·Clinics in Chest Medicine·Michael R KnowlesMargaret Leigh
Nov 12, 2016·The European Respiratory Journal·Jane S LucasClaudia E Kuehni
Nov 20, 2016·The Journal of Pathology·Hannah M Mitchison, Enza Maria Valente
Dec 19, 2016·Journal of Assisted Reproduction and Genetics·Xuan XuJie Wen
Dec 30, 2016·Journal of Human Hypertension·A GrajdaM Litwin
Jan 4, 2017·American Journal of Human Genetics·Tamara PaffDimitra Micha
Mar 28, 2017·Cilia·Megan S KaneCornelius F Boerkoel
Nov 15, 2017·Nucleic Acids Research·Damiano PiovesanSilvio C E Tosatto
Feb 17, 2018·Clinical Genetics·A-L BruelA Verloes

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Citations

Jun 25, 2020·BMC Proceedings·Laura E GardnerClaire Hogg
Sep 9, 2020·Biochemical Society Transactions·Manuela Morleo, Brunella Franco
Sep 19, 2020·Nature Reviews. Disease Primers·Julia WallmeierHeymut Omran
Dec 7, 2020·Seminars in Cell & Developmental Biology·Marie LegendreHannah M Mitchison
Mar 28, 2021·Pharmacology & Therapeutics·Max Duong PhuMelanie Philipp
May 1, 2021·International Journal of Molecular Sciences·Lucie ŠedováRadislav Sedlacek
Jul 15, 2021·Seminars in Respiratory and Critical Care Medicine·Amelia Shoemark, Katharine Harman
Aug 8, 2021·International Journal of Molecular Sciences·Steven K BrennanStephanie D Davis

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