Kallmann's syndrome with a novel missense mutation in the KAL1 gene that modifies the major cell adhesion site of the anosmin-1 protein

Journal of Pediatric Endocrinology and Metabolism

Volumn 18, Issue 6, 2005, Pages 545-548

  Loidi, Lourdes ^a   Castro Feijóo, Lidia ^b   Barreiro, Jesús ^b   Quinteiro, Celsa ^a   Cabanas, Paloma ^b   Varela, Ramiro ^a   Alonso, Adela ^b   Domínguez, Fernando ^a   Pombo, Manuel ^b  

^a UNIVERSITY OF SANTIAGO DE COMPOSTELA   (Spain)

^b HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

Author keywords

Anosmin 1; Cell adhesion site; KAL1 gene; Kallmann's syndrome; Mutation

Indexed keywords

GLYCOPROTEIN;

ADULT; ANOSMIA; ARTICLE; CASE REPORT; CELL ADHESION; FAMILY; GENE SEQUENCE; HUMAN; HYPOGONADOTROPIC HYPOGONADISM; KALLMANN SYNDROME; MALE; MISSENSE MUTATION; POLYMERASE CHAIN REACTION; PROTEIN FUNCTION; X CHROMOSOME LINKAGE;

ADOLESCENT; AMINO ACID SUBSTITUTION; BINDING SITES; CELL ADHESION MOLECULES; DNA; EXTRACELLULAR MATRIX PROTEINS; FIBRONECTINS; HUMANS; KALLMANN SYNDROME; MAGNETIC RESONANCE IMAGING; MALE; MUTATION, MISSENSE; NERVE TISSUE PROTEINS; REVERSE TRANSCRIPTASE POLYMERASE CHAIN REACTION;

EID: 21444451432     PISSN: 0334018X     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article

References (10)

1. Quinton R, Duke VM, Robertson A, Kirk JMW, Matfin G, de Zoysa PA, Azcona C, MacColl GS, Jacobs HS, Conway GS, Besser M, Stanhope RG, Bouloux PMG. Idiopathic gonadotropin deficiency: genetic questions addressed through phenotypic characterization. Clin Endocrinol 2001; 55: 163-174.
2. Franco B, Guioli S, Pragiola A, Incerti B, Bardoni B, Tonlorenzi R, Carrozzo R, Maestrini E, Pieretti M, Taillon-Miller P, Brown CJ, Willard HF, Lawrence C, Persico MG, Camerino G, Ballabio A. A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules. Nature 1991; 353: 529-536.
3. Legouis R, Hardelin JP, Levilliers J, Claverie JM, Compain S, Wunderle V, Millasseau P, Le Paslier D, Cohen D, Caterina D, Bougueleret L, Delamarre-van de Waal H, Lutfalla G, Weissenbach J, Petit C. The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules. Cell 1991; 67: 423-435.
4. Dode C, Levilliers J, Dupont JM, De Paepe A, Le Du N, Soussi-Yanicostas N, Coimbra RS, Delmaghani S, Compain-Nouaille S, Baverel F, Pecheux 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. Loss-of-function mutations in FGFR1 cause autosomal dominant Kallmann syndrome. Nat Genet 2003; 33: 463-465.
5. del Castillo I, Cohen-Salmon M, Blanchard S, Lutfalla G, Petit C. Structure of the X-linked Kallmann syndrome gene and its homologous pseudogene on the Y chromosome. Nat Genet 1992; 2: 305-310.
6. Soussi-Yanicostas N, de Castro F, Julliard AK, Perfettini I, Chedotal A, Petit C. Anosmin-1, defective in the X-linked form of Kallmann syndrome, promotes axonal branch formation from olfactory bulb output neurons. Cell 2002; 109: 217-228.
7. Soussi-Yanicostas N, Faivre-Sarrailh C, Hardelin JP, Levilliers J, Rougon G, Petit C. Anosmin-1 underlying the X chromosome-linked Kallmann syndrome is an adhesion molecule that can modulate neurite growth in a cell-type specific manner. J Cell Sci 1998; 111: 2953-2965.
8. Hardelin JP, Levilliers J, Blanchard S, Carel JC, Leutenegger M, Pinard-Bertelletto JP, Bouloux P, Petit C. Heterogeneity in the mutations responsible for X chromosomed inked Kallmann syndrome. Hum Mol Genet 1993; 2: 373-377.
9. Merlob P. Congenital malformations and developmental changes of the breast: a neonatological view. J Pediatr Endocrinol Metab 2003; 16: 471-485.
10. Robertson A, MacColl G, Nash JAB, Boehm MK, Perkins SJ, Bouloux PMG. Molecular modelling and experimental studies of mutation and cell-adhesion sites in the fibronectin type III and whey acidic protein domains of human anosmin-1. Biochem J 2001; 357: 647-659.