A recurrent mutation in the 5′-UTR of IFITM5 causes osteogenesis imperfecta type V

American Journal of Medical Genetics, Part A

Volumn 161, Issue 8, 2013, Pages 1980-1982

  Takagi, Masaki ^a,b   Sato, Shuhei ^c   Hara, Keiichi ^d   Tani, Chihiro ^e   Miyazaki, Osamu ^f   Nishimura, Gen ^b   Hasegawa, Tomonobu ^a  

^a KEIO UNIVERSITY SCHOOL OF MEDICINE   (Japan)

^b TOKYO METROPOLITAN CHILDREN'S MEDICAL CENTER   (Japan)

^c AOMORI PREFECTURAL CENTRAL HOSPITAL   (Japan)

^d Kure Medical Center   (Japan)

^e HIROSHIMA CITY HOSPITAL   (Japan)

^f NATIONAL CENTER FOR CHILD HEALTH AND DEVELOPMENT   (Japan)

Author keywords

[No Author keywords available]

Indexed keywords

PAMIDRONIC ACID;

5' UNTRANSLATED REGION; ADULT; BONE BOWING; BONE DENSITY; BONE RADIOGRAPHY; CASE REPORT; CESAREAN SECTION; CHILD; DISEASE CLASSIFICATION; DNA SEQUENCE; ECHOGRAPHY; FEMALE; GENE; GENE MUTATION; GENETIC COUNSELING; GESTATIONAL AGE; HUMAN; HYPEROSTOSIS; IFITM5 GENE; LETTER; LIMB MALFORMATION; MALE; MOLECULAR PATHOLOGY; OSTEOGENESIS IMPERFECTA; OSTEOGENESIS IMPERFECTA TYPE 5; OSTEOGENESIS IMPERFECTA TYPE IFITM V; OSTEOPENIA; PRIORITY JOURNAL; RECURRENT DISEASE; SCHOOL CHILD; SCOLIOSIS; UTERUS RUPTURE;

5' UNTRANSLATED REGIONS; ADULT; CHILD, PRESCHOOL; DNA; FEMALE; HUMANS; MALE; MEMBRANE PROTEINS; MUTATION; OSTEOGENESIS IMPERFECTA; PHENOTYPE; POLYMERASE CHAIN REACTION; RECURRENCE;

EID: 84880739236     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.36025     Document Type: Letter

References (5)

1. Cho TJ, Lee KE, Lee SK, Song SJ, Kim KJ, Jeon D, Lee G, Kim HN, Lee HR, Eom HH, Lee ZH, Kim OH, Park WY, Park SS, Ikegawa S, Yoo WJ, Choi IH, Kim JW. 2012. A Single recurrent mutation in the 5′-UTR of IFITM5 causes osteogenesis imperfecta type V. Am J Hum Genet 91:343-348.
2. del Rio L, Carrascosa A, Pons F, Gusinyé M, Yeste D, Domenech FM. 1994. Bone mineral density of the lumbar spine in white Mediterranean Spanish children and adolescents: Changes related to age, sex, and puberty. Pediatr Res 35:362-366.
3. Forlino A, Cabral WA, Barnes AM, Marini JC. 2011. New perspectives on osteogenesis imperfecta. Nat Rev Endocrinol 7:540-557.
4. Glorieux FH, Rauch F, Plotkin H, Ward L, Travers R, Roughley P, Lalic L, Glorieux DF, Fassier F, Bishop NJ. 2000. Type V osteogenesis imperfecta: A new form of brittle bone disease. J Bone Miner Res 15:1650-1658.
5. Semler O, Garbes L, Keupp K, Swan D, Zimmermann K, Becker J, Iden S, Wirth B, Eysel P, Koerber F, Schoenau E, Bohlander SK, Wollnik B, Netzer C. 2012. A mutation in the 5′-UTR of IFITM5 creates an in-frame start codon and causes autosomal-dominant osteogenesis imperfecta type V with hyperplastic callus. Am J Hum Genet 91:349-357.