Heterozygous mutations in ANKH, the human ortholog of the mouse progressive ankylosis gene, result in craniometaphyseal dysplasia

Nature Genetics
P NürnbergS Tinschert

Abstract

Craniometaphyseal dysplasia (CMD) is a bone dysplasia characterized by overgrowth and sclerosis of the craniofacial bones and abnormal modeling of the metaphyses of the tubular bones. Hyperostosis and sclerosis of the skull may lead to cranial nerve compressions resulting in hearing loss and facial palsy. An autosomal dominant form of the disorder (MIM 123000) was linked to chromosome 5p15.2-p14.1 (ref. 3) within a region harboring the human homolog (ANKH) of the mouse progressive ankylosis (ank) gene. The ANK protein spans the outer cell membrane and shuttles inorganic pyrophosphate (PPi), a major inhibitor of physiologic and pathologic calcification, bone mineralization and bone resorption. Here we carry out mutation analysis of ANKH, revealing six different mutations in eight of nine families. The mutations predict single amino acid substitutions, deletions or insertions. Using a helix prediction program, we propose for the ANK molecule 12 membrane-spanning helices with an alternate inside/out orientation and a central channel permitting the passage of PPi. The mutations occur at highly conserved amino acid residues presumed to be located in the cytosolic portion of the protein. Our results link the PPi channel ANK with bone...Continue Reading

References

Feb 1, 1989·Australasian Radiology·D B Taylor, P Sprague
Jan 1, 1981·Metabolic Bone Disease & Related Research·H Fleisch
May 1, 1995·Journal of Medical Genetics·P Beighton
Jul 1, 1995·Human Molecular Genetics·A E HughesM Doherty
May 30, 1998·American Journal of Medical Genetics·S Tinschert, H S Braun
Jan 23, 1999·American Journal of Human Genetics·L J AndrewC J Williams

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Citations

Dec 22, 2005·Journal of Bone and Mineral Metabolism·Chikahiko NumakuraYukihiro Hasegawa
May 1, 2002·Current Opinion in Rheumatology·Ikuko Masuda, Jun Hirose
Apr 23, 2003·Current Opinion in Rheumatology·Lawrence M Ryan, Ann K Rosenthal
Apr 23, 2003·Current Opinion in Rheumatology·Charlene J Williams
Apr 23, 2004·Current Opinion in Rheumatology·Jill C Costello, Lawrence M Ryan
Apr 20, 2005·Current Opinion in Rheumatology·Yun Zhang, Matthew A Brown
Feb 8, 2006·Current Opinion in Rheumatology·Raihana Zaka, Charlene J Williams
Feb 7, 2007·Current Opinion in Rheumatology·Anthony M Reginato, Bjorn R Olsen
Apr 3, 2009·Current Opinion in Rheumatology·Hang-Korng Ea, Frédéric Lioté
Dec 17, 2004·Molecular and Cellular Biology·Wei WangThorsten Kirsch
Sep 1, 2007·Cellular Physiology and Biochemistry : International Journal of Experimental Cellular Physiology, Biochemistry, and Pharmacology·Georgina CarrNicholas L Simmons
Aug 30, 2008·Cells, Tissues, Organs·Thorsten KirschJeffrey A Winkles
Nov 20, 2012·Journal of Dental Research·E H DutraE J Reichenberger
Jan 7, 2011·The Journal of Clinical Endocrinology and Metabolism·Michael T Collins, Manfred Boehm
Jun 22, 2012·International Journal of Biological Sciences·Xiaoying ZhouJinxiang Han
Apr 2, 2011·Osteoporosis International : a Journal Established As Result of Cooperation Between the European Foundation for Osteoporosis and the National Osteoporosis Foundation of the USA·C L GregsonJ H Tobias
Jun 9, 2004·The Journal of Cell Biology·Monzur MurshedGerard Karsenty
Oct 22, 2005·Orthodontics & Craniofacial Research·B L Foster, M J Somerman
Jul 13, 2006·Annals of the New York Academy of Sciences·R Graham G Russell
Dec 23, 2014·BioMed Research International·Taha FaruqiSamir M Abdelmagid
Feb 16, 2010·Journal of Nippon Medical School = Nippon Ika Daigaku Zasshi·Hideo Orimo
Apr 7, 2017·European Journal of Endocrinology·Eveline Boudin, Wim Van Hul
Nov 18, 2011·The Journal of Rheumatology·Fernando Manuel Pimentel-SantosUNKNOWN CORPOREA Study Group
Aug 29, 2020·Current Rheumatology Reports·Carrie RichardsonJohn Varga
Jun 7, 2003·American Journal of Physiology. Endocrinology and Metabolism·L Darryl Quarles
Aug 31, 2006·Journal of Bone and Mineral Research : the Official Journal of the American Society for Bone and Mineral Research·Dympna HarmeyJosé Luis Millán
Oct 4, 2007·Experimental Physiology·S H MoochhalaN L Simmons
Feb 21, 2013·Pediatrics International : Official Journal of the Japan Pediatric Society·Tamaki KatoShigeaki Nonoyama
Aug 3, 2014·Circulation. Cardiovascular Genetics·Lisa J MartinD Woodrow Benson
Feb 16, 2018·BMJ Case Reports·Jacopo C DiFrancescoBarbara Castellotti
Oct 15, 2003·Arthritis and Rheumatism·Maryse PicherGreta M Lee
May 19, 2009·American Journal of Medical Genetics. Part a·Gareth BaynamLyn Schofield

❮ Previous
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