A healthy individual with a homozygous PTCH2 frameshift variant: Are variants of PTCH2 associated with nevoid basal cell carcinoma syndrome?

被引：14

作者：

Altaraihi, M. ^{[1
]}

Wadt, K. ^{[1
]}

Ek, J. ^{[1
]}

Gerdes, A. M. ^{[1
]}

Ostergaard, E. ^{[1
]}

机构：

[1] Copenhagen Univ Hosp, Rigshosp, Dept Clin Genet, Copenhagen, Denmark

来源：

HUMAN GENOME VARIATION | 2019年 / 6卷 / 1期

关键词：

MUTATION; GENE;

D O I：

10.1038/s41439-019-0041-2

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Variants in PTCH2 have been described to be associated with Nevoid Basal Cell Carcinoma Syndrome (NBCCS). We report a family with a healthy female who is homozygous for a frameshift variant, c.269delG,p.(Gly90Alafs*4), in PTCH2 and her heterozygous daughter. The variant predicts a frameshift and a premature stop codon. A summary of reported heterozygous individuals with germline PTCH2 variants along with the existence of a healthy homozygous individual question whether variants in PTCH2 are associated with NBCCS.

引用

页数：5

共 17 条

[1]

BARE JW, 1992, CANCER RES, V52, P1494

[2] PRENATAL-DIAGNOSIS OF GORLIN SYNDROME [J].

BIALER, MG ;

GAILANI, MR ;

MCLAUGHLIN, JA ;

PETRIKOVSKY, B ;

BALE, AE .

LANCET, 1994, 344 (8920) :477-477

[3] Nationwide survey of nevoid basal cell carcinoma syndrome in Japan revealing the low frequency of basal cell carcinoma [J].

Endo, Mamiko ;

Fujii, Katsunori ;

Sugita, Katsuo ;

Saito, Kayoko ;

Kohno, Yoichi ;

Miyashita, Toshiyuki .

AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2012, 158A (02) :351-357

[4]

Evans D.G., 2002, NEVOID BASAL CELL CA

[5] COMPLICATIONS OF THE NEVOID BASAL-CELL CARCINOMA SYNDROME - RESULTS OF A POPULATION-BASED STUDY [J].

EVANS, DGR ;

LADUSANS, EJ ;

RIMMER, S ;

BURNELL, LD ;

THAKKER, N ;

FARNDON, PA .

JOURNAL OF MEDICAL GENETICS, 1993, 30 (06) :460-464

[6] A missense mutation in PTCH2 underlies dominantly inherited NBCCS in a Chinese family [J].

Fan, Z. ;

Li, J. ;

Du, J. ;

Zhang, H. ;

Shen, Y. ;

Wang, C-Y ;

Wang, S. .

JOURNAL OF MEDICAL GENETICS, 2008, 45 (05) :303-308

[7] Frameshift mutation in the PTCH2 gene can cause nevoid basal cell carcinoma syndrome [J].

Fujii, Katsunori ;

Ohashi, Hirofumi ;

Suzuki, Maiko ;

Hatsuse, Hiromi ;

Shiohama, Tadashi ;

Uchikawa, Hideki ;

Miyashita, Toshiyuki .

FAMILIAL CANCER, 2013, 12 (04) :611-614

[8]

Kimonis VE, 1997, AM J MED GENET, V69, P299, DOI 10.1002/(SICI)1096-8628(19970331)69:3<299::AID-AJMG16>3.0.CO

[9]

2-M

[10] Nevoid basal cell carcinoma syndrome. Clinical findings in 37 Italian affected individuals [J].

Lo Muzio, L ;

Nocini, PF ;

Savoia, A ;

Consolo, U ;

Procaccini, M ;

Zelante, L ;

Pannone, G ;

Bucci, P ;

Dolci, M ;

Bambini, F ;

Solda, P ;

Favia, G .

CLINICAL GENETICS, 1999, 55 (01) :34-40

← 1 2 →