Hypogonadotropic hypogonadism and cleft lip and palate caused by a balanced translocation producing haploinsufficiency for FGFR1

被引：43

作者：

Kim, HG

Herrick, SR

Lemyre, E

Kishikawa, S

Salisz, JA

Seminara, S

MacDonald, ME

Bruns, GAP

Morton, CC

Quade, BJ

Gusella, JF

机构：

[1] Harvard Univ, Sch Med, Massachusetts Gen Hosp,Dept Genet, Ctr Human Genet Res,Mol Neurogenet Unit, Boston, MA 02129 USA

[2] Harvard Univ, Sch Med, Brigham & Womens Hosp, Dept Pathol, Boston, MA 02115 USA

[3] Univ Montreal, Hop St Justine, Med Genet Serv, Montreal, PQ H3T 1C5, Canada

[4] W Shore Urol, Muskegon, MI USA

[5] Massachusetts Gen Hosp, Reprod Endocrine Unit, Boston, MA 02114 USA

[6] Harvard Univ, Sch Med, Childrens Hosp, Dept Pediat,Genet Div, Boston, MA 02115 USA

[7] Harvard Univ, Sch Med, Brigham & Womens Hosp, Dept Obstet Gynecol & Reprod Biol, Boston, MA 02115 USA

来源：

JOURNAL OF MEDICAL GENETICS | 2005年 / 42卷 / 08期

关键词：

D O I：

10.1136/jmg.2004.026989

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

[No abstract available]

引用

页码：666 / 672

页数：7

共 31 条

[1]

ANDERSON MA, 1984, IN VITRO CELL DEV B, V20, P856

[2] CHROMOSOME ABNORMALITY IN KALLMANN SYNDROME [J].

BEST, LG ;

WASDAHL, WA ;

LARSON, LM ;

STURLAUGSON, J .

AMERICAN JOURNAL OF MEDICAL GENETICS, 1990, 35 (03) :306-309

[3] The product of X-linked Kallmann's syndrome gene (KAL1) affects the migratory activity of gonadotropin-releasing hormone (GnRH)-producing neurons [J].

Cariboni, A ;

Pimpinelli, F ;

Colamarino, S ;

Zaninetti, R ;

Piccolella, M ;

Rumio, C ;

Piva, F ;

Rugarli, EI ;

Maggi, R .

HUMAN MOLECULAR GENETICS, 2004, 13 (22) :2781-2791

[4]

Carson-Walter EB, 2001, CANCER RES, V61, P6649

[5] Molecular characterization of human tensin [J].

Chen, HY ;

Ishii, A ;

Wong, WK ;

Chen, LB ;

Lo, SH .

BIOCHEMICAL JOURNAL, 2000, 351 :403-411

[6] Integration of cytogenetic landmarks into the draft sequence of the human genome [J].

Cheung, VG ;

Nowak, N ;

Jang, W ;

Kirsch, IR ;

Zhao, S ;

Chen, XN ;

Furey, TS ;

Kim, UJ ;

Kuo, WL ;

Olivier, M ;

Conroy, J ;

Kasprzyk, A ;

Massa, H ;

Yonescu, R ;

Sait, S ;

Thoreen, C ;

Snijders, A ;

Lemyre, E ;

Bailey, JA ;

Bruzel, A ;

Burrill, WD ;

Clegg, SM ;

Collins, S ;

Dhami, P ;

Friedman, C ;

Han, CS ;

Herrick, S ;

Lee, J ;

Ligon, AH ;

Lowry, S ;

Morley, M ;

Narasimhan, S ;

Osoegawa, K ;

Peng, Z ;

Plajzer-Frick, I ;

Quade, BJ ;

Scott, D ;

Sirotkin, K ;

Thorpe, AA ;

Gray, JW ;

Hudson, J ;

Pinkel, D ;

Ried, T ;

Rowen, L ;

Shen-Ong, GL ;

Strausberg, RL ;

Birney, E ;

Callen, DF ;

Cheng, JF ;

Cox, DR .

NATURE, 2001, 409 (6822) :953-958

[7] POSITIONAL CLONING MOVES FROM PERDITIONAL TO TRADITIONAL [J].

COLLINS, FS .

NATURE GENETICS, 1995, 9 (04) :347-350

[8] The t(8;22) in chronic myeloid leukemia fuses BCR to FGFR1: transforming activity and specific inhibition of FGFR1 fusion proteins [J].

Demiroglu, A ;

Steer, EJ ;

Heath, C ;

Taylor, K ;

Bentley, M ;

Allen, SL ;

Koduru, P ;

Brody, JP ;

Hawson, G ;

Rodwell, R ;

Doody, ML ;

Carnicero, F ;

Reiter, A ;

Goldman, JM ;

Melo, JV ;

Cross, NCP .

BLOOD, 2001, 98 (13) :3778-3783

[9] Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome [J].

Dodé, C ;

Levilliers, J ;

Dupont, JM ;

De Paepe, A ;

Le Dû, N ;

Soussi-Yanicostas, N ;

Coimbra, RS ;

Delmaghani, S ;

Compain-Nouaille, S ;

Baverel, F ;

Pêcheux, C ;

Le Tessier, D ;

Cruaud, C ;

Delpech, M ;

Speleman, F ;

Vermeulen, S ;

Amalfitano, A ;

Bachelot, Y ;

Bouchard, P ;

Cabrol, S ;

Carel, JC ;

Delemarre-van de Waal, H ;

Goulet-Salmon, B ;

Kottler, ML ;

Richard, O ;

Sanchez-Franco, F ;

Saura, R ;

Young, J ;

Petit, C ;

Hardelin, JP .

NATURE GENETICS, 2003, 33 (04) :463-465

[10] Kallmann syndrome:: fibroblast growth factor signaling insufficiency? [J].

Dodé, C ;

Hardelin, JP .

JOURNAL OF MOLECULAR MEDICINE-JMM, 2004, 82 (11) :725-734

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