Clinical, molecular and histopathological features of short stature syndrome with novel CUL7 mutation in Yakuts: New population isolate in Asia

Journal of Medical Genetics

Volumn 44, Issue 12, 2007, Pages 772-778

  Maksimova, N ^b   Hara, K ^a   Miyashia, A ^a   Nikolaeva, I ^b   Shiga, A ^a   Nogovicina, A ^c   Sukhomyasova, A ^c   Argunov, V ^b   Shvedova, A ^c   Ikeuchi, T ^a   Nishizawa, M ^a   Kuwano, R ^a   Onodera, O ^a  

^a NIIGATA UNIVERSITY   (Japan)

^b Russian Academy of Sciences   (Russian Federation)

^c Republican Hospital No1   (Russian Federation)

Author keywords

[No Author keywords available]

Indexed keywords

CULLIN; CULLIN 7; UNCLASSIFIED DRUG;

ARTICLE; ASIA; BRONCHUS; CARTILAGE; CLINICAL ARTICLE; CLINICAL FEATURE; FACE DYSMORPHIA; FETUS CIRCULATION; FRAMESHIFT MUTATION; GENE MAPPING; GENE MUTATION; GROWTH DISORDER; HAPLOTYPE; HISTOPATHOLOGY; HOMOZYGOSITY; HUMAN; INTELLIGENCE; MICROSATELLITE MARKER; MOLECULAR GENETICS; POPULATION GENETICS; PRIORITY JOURNAL; RESPIRATORY DISTRESS; SHORT STATURE; STOP CODON; VASCULARIZATION;

ADOLESCENT; ADULT; BRONCHI; CHILD; CHILD, PRESCHOOL; CODON, NONSENSE; CULLIN PROTEINS; DWARFISM; ETHNIC GROUPS; FACE; FEMALE; FETAL GROWTH RETARDATION; FOUNDER EFFECT; GENES, RECESSIVE; HAPLOTYPES; HUMANS; INFANT, NEWBORN; MALE; MUTAGENESIS, INSERTIONAL; PHENOTYPE; PLACENTA; RESPIRATORY DISTRESS SYNDROME, NEWBORN; SIBERIA; SYNDROME;

EID: 37249033121     PISSN: 00222593     EISSN: None     Source Type: Journal    
DOI: 10.1136/jmg.2007.051979     Document Type: Article

References (22)

1. Peltonen L, Palotie A, Lange K. Use of population isolates for mapping complex traits. Nat Rev Genet 2000;1:182-90.
2. Pakendorf B, Novgorodov IN, Osakovskij VL, Danilova AP, Protod'jakonov AP, Stoneking M. Investigating the effects of prehistoric migrations in Siberia: genetic variation and the origins of Yakuts. Hum Genet 2006;120:334-53.
3. Tarskaia LA, Zinchenko RA, El'chinova GI, Egorova AG, Korotov MN, Basova EV, Prokop'eva AM, Sivtseva EN, Nikolaeva EE, Banshchinkova ES, Samarkina MV, Danilova GI, Zhelobtsova AF, Danilova AP, Popova GN. [The structure and diversiity of hereditary pathology in Sakha Republic (Yakutia)]. Genetika 2004;40:1530-9.
4. Nogovicina AN, Maksimova NR, Khandy MV. Monogenic hereditary diseases of families consulted in Medical Genetical Department of National Center of the Republic of Sakha (Yakutia) from 1990 to 1998 years. Far East Med J 1999;1:26-30.
5. Miller JD, McKusick VA, Malvaux P, Temtamy S, Salinas C. The 3-M syndrome: a heritable low birthweight dwarfism. Birth Detects Orig Artic Ser 1975;11:39-47.
6. Le Merrer M, Brauner R, Maroteaux P. Dwarfism with gloomy face: a new syndrome with features of 3-M syndrome. J Med Genet 1991;28:186-91.
7. Huber C, Dias-Santagata D, Glaser A, O'Sullivan J, Brauner R, Wu K, Xu X, Pearce K, Wang R, Uzielli ML, Dagoneau N, Chemaitilly W, Superti-Furga A, Dos Santos H, Megarbane A, Morin G, Gillessen-Kaesbach G, Hennekam R, Van der Burgt I, Black GC, Clayton PE, Read A, Le Merrer M, Scambler PJ, Munnich A, Pan ZQ, Winter R, Cormier-Daire V. Identification of mutations in CUL7 in 3-M syndrome. Nat Genet 2005;37:1119-24.
8. Cantu JM, Garcia-Cruz D, Sanchez-Corona J, Fragoso R, Hernandez A, Nazara-Cazorla Z. 3-M slender-boned nanism. An intrauterine growth retardation syndrome. Am J Dis Child 1981;135:905-8.
9. Hennekam RC, Bijlsma JB, Spranger J. Further delineation of the 3-M syndrome with review of the literature. Am J Med Genet 1987;28:195-209.
10. Marik I, Marikova O, Kuklik M, Zemkova D, Kozlowski K. 3-M syndrome in two sisters. J Paediatr Child Health 2002;38:419-22.
11. Meo F, Pinto V, D'Addario V. 3-M syndrome: a prenatal ultrasonographic diagnosis. Prenat Diagn 2000;20:921-3.
12. Spranger J, Opitz JM, Nourmand A. A new familial intrauterine growth retardation syndrome the "3-M syndrome". Eur J Pediatr 1976;123:115-24.
13. Temlamy SA, Aglan MS, Ashour AM, Ramzy MI, Hosny LA, Mostafa MI. 3-M syndrome: a report of three Egyptian cases with review of the literature. Clin Dysmorphol 2006;15:55-64.
14. van der Wal G, Otten BJ, Brunner HG, van der Burgt I. 3-M syndrome: description of six new patients with review of the literature. Clin Dysmorphol 2001;10:241-52.
15. Winter RM, Baraitser M, Grant DB, Preece MA, Hall CM. The 3-M syndrome. J Med Genet 1984;21:124-8.
16. Houwen RH, Baharloo S, Blankenship K, Raeymaekers P, Juyn J, Sandkuijl LA, Freimer NB. Genome screening by searching for shared segments: mapping a gene for benign recurrent intrahepatic cholestasis. Nat Genet 1994;8:380-6.
17. Arai T, Kasper JS, Skaar JR, Ali SH, Takahashi C, DeCaprio JA. Targeted disruption of p185/Cul7 gene results in abnormal vascular morphogenesis. Proc Natl Acad Sci U S A 2003;100:9855-60.
18. Arcos-Burgos M, Muenke M. Genetics of population isolates. Clin Genet 2002;61:233-47.
19. Karlberg N, Jalanko H, Perheentupa J, Lipsanen-Nyman M. Mulibrey nanism: clinical features and diagnostic criteria. J Med Genet 2004;41:92-8.
20. Price SM, Stanhope R, Garrett C, Preece MA, Trembath RC. The spectrum of Silver-Russell syndrome: a clinical and molecular genetic study and new diagnostic criteria. J Med Genet 1999;36:837-42.
21. Dias DC, Dolios G, Wang R, Pan ZQ. CUL7: A DOC domain-containing cullin selectively binds Skp1 .Fbx29 to form an SCF-like complex. Proc Natl Acad Sci U S A 2002;99:16601-6.
22. Kuzmiak HA, Maquat LE. Applying nonsense-mediated mRNA decay research to the clinic: progress and challenges. Trends Mol Med 2006;12:306-16.