A germline PTEN mutation with manifestations of prenatal onset and verrucous epidermal nevus

American Journal of Medical Genetics, Part A

Volumn 140, Issue 13, 2006, Pages 1472-1475

  Tekin, Mustafa ^a   Hişmi, Burcu Öztürk ^a   Fitoz, Suat ^a   Yalçinkaya, Fatoş ^a   Ekim, Mesiha ^a   Kansu, Aydan ^a   Ertem, Mehmet ^a   Deda, Gülhis ^a   Tutar, Ercan ^a   Arsan, Saadet ^a   Zhou, Xiao Ping ^b   Pilarski, Robert ^b   Eng, Charis ^b,c,d   Akar, Nejat ^a  

^a ANKARA UNIVERSITY   (Turkey)

^b OHIO STATE UNIVERSITY   (United States)

^c CLEVELAND CLINIC LERNER COLLEGE OF MEDICINE   (United States)

^d CASE WESTERN RESERVE UNIVERSITY SCHOOL OF MEDICINE   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; CASE REPORT; CLINICAL FEATURE; COMPUTER ASSISTED TOMOGRAPHY; GENE; GENE MUTATION; GENETIC SCREENING; GERM LINE; HUMAN; HUMAN TISSUE; INFANT; MAGNETIC RESONANCE ANGIOGRAPHY; MALE; NEVUS; ONSET AGE; PRENATAL PERIOD; PRIORITY JOURNAL; PTEN GENE; SKIN BIOPSY; VERRUCOUS EPIDERMAL NEVUS;

AGE OF ONSET; CHILD, PRESCHOOL; EPIDERMIS; FEMALE; GERM-LINE MUTATION; HUMANS; MALE; NEVUS; PREGNANCY; PRENATAL DIAGNOSIS; PTEN PHOSPHOHYDROLASE; SKIN NEOPLASMS;

EID: 33745584136     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31273     Document Type: Article

References (11)

1. Cohen MM Jr, Turner JT, Biesecker LG. 2004. Reply to Kirk et al. Am J Med Genet Part A 130A:216-217.
2. Hamada K, Sasaki T, Koni PA, Natsui M, Kishimoto H, Sasaki J, Yajima N, Horie Y, Hasegawa G, Naito M, Miyazaki J, Suda T, Itoh H, Nakao K, Mak TW, Nakano T, Suzuki A. 2005. The PTEN/PI3K pathway governs normal vascular development and tumor angiogenesis. Genes Dev 19:2054-2065.
3. Huang J, Kontos CD. 2002. Inhibition of vascular smooth muscle cell proliferation, migration, and survival by the tumor suppressor protein PTEN. Arterioscler Thromb Vasc Biol 22:745-751.
4. Kirk EP, Smith JM, Field M, Marshall GM, Marsh DJ. 2004. Diagnosis of Proteus syndrome was correct. Am J Med Genet Part A 130A:214-215.
5. Liaw D, Marsh DJ, Li J, Dahia PLM, Wang SI, Zheng Z, Bose S, Call KM, Tsou SM, Peacocke M, Eng C. 1997. Germline mutations of the PTEN gene in Cowden disease, an inherited breast and thyroid cancer syndrome. Nat Genet 16:64-67.
6. Marsh DJ, Caron S, Dahia PLM, Kum JB, Frayling IM, Tomlinson IPM, Hughes KS, Hodgson SV, Murday VA, Houlston R, Eng C. 1998a. Germline PTEN mutations in Cowden syndrome-like families. J Med Genet 35:881-885.
7. Marsh DJ, Coulon V, Lunetta KL, Rocca-Serra P, Dahia PLM, Zheng Z, Liaw D, Caron S, Duboue B, Lin AY, Richardson A-L, Bonnetblanc J-M, Bressieux J-M, Cabarrot-Moreau A, Chompret A, Demange L, Eeles RA, Yahanda AM, Fearon ER, Fricker J-P, Gorlin RJ, Hodgson SV, Huson S, Lacombe D, LePrat F, Odent S, Toulouse C, Olopade OI, Sobol H, Tishler S, Woods CG, Robinson BG, Weber HC, Parsons R, Peacocke M, Longy M, Eng C. 1998b. Mutation spectrum and genotype-phenotype analyses in Cowden syndrome and Banayan-Zonana syndrome, two hamartonia syndromes with germline PTEN mutation. Hum Mol Genet 7:507-515.
8. Marsh DJ, Kum JB, Lunetta KL, Bennett MJ, Gorlin RJ, Ahmed SF, Bodurtha J, Crowe C, Curtis MA, Dazouki M, Dunn T, Feit H, Geraghty MT, Graham JM, Hodgson SV, Hunter A, Korf BR, Manchester D, Miesfeldt S, Murday VA, Nathanson KA, Parisi M, Pober B, Romano C, Tolmie JL, Tremhath R, Winter RM, Zackai EH, Zori RT, Weng LP, Dahia PLM, Eng C. 1999. PTEN mutation spectrum and genotype-phenotype correlations in Bannayan-Riley-Ruvalcaba syndrome suggest a single entity with Cowden syndrome. Hum Mol Genet 8:1461-1472.
9. Nelen MR, Padberg GW, Peeters EAJ, Lin AY, van den Helm B, Frants RR, Coulon V, Goldstein AM, vasn Reen MMM, Easton DF, Eeles RA, Hodgson S, Mulvihill JJ, Murday VA, Tucker MA, Mariman ECM, Starink TM, Ponder BAJ, Ropers HH, Kremer H, Longy M, Eng C. 1996. Localization of gene for Cowden disease to 10q22-23. Nat Genet 13:114-116.
10. Reardon W, Zhou XP, Eng C. 2001. A novel germline mutation of the PTEN gene in a patient with macrocephaly, ventricular dilatation, and features of VATER association. J Med Genet 38:820-823.
11. Smith JM, Kirk EPE, Theodosopoulos G, Marshall GM, Walker J, Rogers M, Field M, Brereton JJ, Marsh DJ. 2002. Germline mutation of the tumor suppressor PTEN in Proteus syndrome. J Med Genet 39:937-940.