Novel mutations in natriuretic peptide receptor-2 gene underlie acromesomelic dysplasia, type maroteaux

BMC Medical Genetics

Volumn 13, Issue , 2012, Pages

  Khan, Saadullah ^a   Ali, Raja H ^a   Abbasi, Sanaullah ^a   Nawaz, Muhammad ^a   Muhammad, Noor ^b   Ahmad, Wasim ^a  

^a QUAID I AZAM UNIVERSITY   (Pakistan)

^b KOHAT UNIVERSITY OF SCIENCE AND TECHNOLOGY   (Pakistan)

Author keywords

Acromesomelic dysplasia type Maroteaux; gene NPR2; missence mutation (T907M); splice site mutation c.2986 + 2 T > G

Indexed keywords

MICROSATELLITE DNA; NATRIURETIC FACTOR; NATRIURETIC PEPTIDE RECEPTOR 2; UNCLASSIFIED DRUG;

ACROMESOMELIC DYSPLASIA; ADOLESCENT; ADULT; ARTICLE; CHILD; CHROMOSOME 9P; CLINICAL ARTICLE; DWARFISM; FEMALE; GENE MUTATION; GENE SEQUENCE; GENOTYPE; HUMAN; MALE; MAROTEAUX LAMY SYNDROME; MISSENSE MUTATION; PAKISTAN; POLYMERASE CHAIN REACTION; SCHOOL CHILD;

ADOLESCENT; ADULT; BASE SEQUENCE; BONE DISEASES, DEVELOPMENTAL; CHILD; CONSANGUINITY; EXONS; FEMALE; HAPLOTYPES; HUMANS; MALE; MICROSATELLITE REPEATS; MOLECULAR SEQUENCE DATA; MUTATION, MISSENSE; PEDIGREE; RECEPTORS, ATRIAL NATRIURETIC FACTOR; RNA SPLICE SITES; SEQUENCE ANALYSIS, DNA; YOUNG ADULT;

EID: 84861978446     PISSN: None     EISSN: 14712350     Source Type: Journal    
DOI: 10.1186/1471-2350-13-44     Document Type: Article

References (23)

1. Langer LO, Garrett RT. Acromesomelic dysplasia. Radiology 1980, 137:349-355.
2. Borrelli P, Fasanelli S, Marini R. Acromesomelic dwarfism in a child with an interesting family history. Pediatr Radiol 1983, 13:165-168. 10.1007/BF01624409, 6866577.
3. Kant SG, Polinkovsky A, Mundlos S, Zabel B, Thomeer RTWM, Zonderland HM. Acromesomelic dysplasia maroteaux type maps to human chromosome 9. Am J Hum Genet 1998, 63:155-162. 10.1086/301917, 1377238, 9634515.
4. Bartels CF, Bükülmez H, Padayatti P, Rhee DK, van Ravenswaaij-Arts C, Pauli RM, Mundlos S, Chitayat D, Shih LY, Al-Gazali LI, Kant S, Cole T, Morton J, Cormier-Daire V, Faivre L, Lees M, Kirk J, Mortier GR, Leroy J, Zabel B, Kim CA, Crow Y, Braverman NE, van den Akker F, Warman ML. Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux. Am J Hum Genet 2004, 75:27-34. 10.1086/422013, 1182004, 15146390.
5. Kishimoto I, Rossi K, Garbers DL. A genetic model provides evidence that the receptor for atrial natriuretic peptide (guanylyl cyclase-A) inhibits cardiac ventricular myocyte hypertrophy. Pro Natl Acad Sci USA 2001, 98:2703-2706.
6. Tamura N, Doolittle LK, Hammer RE, Shelton JM, Richardson JA, Garbers DL. Critical roles of the guanylyl cyclase B receptor in endochondral ossification and development of female reproductive organs. Proc Natl Acad Sci USA 2004, 101:17300-17305. 10.1073/pnas.0407894101, 534612, 15572448.
7. Langenickel TH, Buttgereit J, Pagel-Langenickel I, Lindner M, Monti J, Beuerlein K, Al-Saadi N, Plehm R, Popova E, Tank J, Dietz R, Willenbrock R, Bader M. Cardiac hypertrophy in transgenic rats expressing a dominant-negative mutant of the natriuretic peptide receptor B. Proc Natl Acad Sci USA 2006, 103:4735-4740. 10.1073/pnas.0510019103, 1450239, 16537417.
8. Potter LR, Abbey-Hosch S, Dickey DM. Natriuretic peptides, their receptors, and cyclic guanosine monophosphate-dependent signaling functions. Endocr Rev 2006, 27:47-72.
9. Silberbach M, Roberts CJ. Natriuretic peptide signalling: molecular and cellular pathways to growth regulation. Cell Signal 2001, 13:221-231. 10.1016/S0898-6568(01)00139-5, 11306239.
10. Pagel-Langenickel I, Buttgereit J, Bader M, Langenickel TH. Natriuretic peptide receptor B signaling in the cardiovascular system: protection from cardiac pertrophy. J Mol Med 2007, 85:797-810. 10.1007/s00109-007-0183-4, 17429599.
11. Schulz S. C-type natriuretic peptide and guanylyl cyclase B receptor. Peptides 2005, 26:1024-1034. 10.1016/j.peptides.2004.08.027, 15911070.
12. Garbers DL, Chrisman TD, Wiegn P, Katafuchi T, Albanesi JP, Bielinski V, Barylko B, Redfield MM, Burnett JC. Membrane guanylyl cyclase receptors: an update. Trends Endocrinol Metab 2006, 17:251-258. 10.1016/j.tem.2006.06.006, 2647281, 16815030.
13. Khan S, Muzaffar S, Tariq M, Khan A, Basit S, Ahmad W. Mapping of a novel locus for autosomal recessive form of palmoplantar keratoderma on chromosome 3q27.2-q29. Br J Dermatol 2010, 163:711-718. 10.1111/j.1365-2133.2010.09881.x, 20518786.
14. Rozen S, Skaletsky H. Primer3 on the WWW for general users and for biologist programmers. Meth Mol Biol 2000, 132:365-386.
15. Olney RC, Bükülmez H, Bartels CF, Prickett TC, Espiner EA, Potter LR, Warman ML. Heterozygous mutations in natriuretic peptide receptor-B (NPR2) are associated with short stature. J Clin Endocrinol Metab 2006, 91:1229-1232. 10.1210/jc.2005-1949, 16384845.
16. Hachiya R, Ohashi Y, Kamei Y, Suganami T, Mochizuki H, Mitsui N, Saitoh M, Sakuragi M, Nishimura G, Ohashi H, Hasegawa T, Ogawa Y. Intact kinase homology domain of natriuretic peptide receptor-B is essential for skeletal development. J Clin Endocrinol Metab 2007, 92:4009-4014. 10.1210/jc.2007-1101, 17652215.
17. Potter LR. Domain analysis of human transmembrane guanylyl cyclase receptors: implications for regulation. Front Biosci 2005, 10:1205-1220. 10.2741/1613, 15769619.
18. Tamura N, Garbers DL. Regulation of the guanylyl cyclase-B receptor by alternative splicing. J Biol Chem 2003, 278:48880-48889. 10.1074/jbc.M308680200, 14514678.
19. Hume AN, Buttgereit J, Al-Awadhi AM, Al-Suwaidi SS, John A, Bader M, Seabra MC, Al-Gazali L, Ali BR. Defective cellular trafficking of missense NPR-B mutants is the major mechanism underlying acromesomelic dysplasia-type Maroteaux. Hum Mol Genet 2009, 18(2):267-277. 2638773, 18945719.
20. Weischenfeldt J, Lykke-Andersen J, Porse B. Messenger RNA surveillance: neutralizing natural nonsense. Curr Biol 2005, 15:559-562.
21. Tsuji T, Kunieda T. A loss-of-function mutation in natriuretic peptide receptor 2 (Npr2) gene is responsible for disproportionate dwarfism in cn/cn mouse. J Biol Chem 2005, 280:14288-14292. 10.1074/jbc.C500024200, 15722353.
22. Smolenski A, Burkhardt AM, Eigenthaler M, Butt E, Gambaryan S, Lohmann SM, Walter U. Functional analysis of cGMP-dependent protein kinases I and II as mediators of NO/cGMP effects. Naunyn Schmiedebergs Arch Pharmacol 1998, 358:134-139. 10.1007/PL00005234, 9721015.
23. Pfeifer A, Aszódi A, Seidler U, Ruth P, Hofmann F, Fässler R. Intestinal secretory defects and dwarfism in mice lacking cGMP-dependent protein kinase II. Science 1996, 274:2082-2086. 10.1126/science.274.5295.2082, 8953039.