Kallmann's syndrome with a novel missense mutation in the KAL1 gene that modifies the major cell adhesion site of the anosmin-1 protein.
Kallmann's syndrome (KS) refers to the association of hypogonadic hypogonadism and anosmia or hyposmia. The X-linked form of the disease is due to mutations in the KAL1 gene that encodes for the protein anosmin-1. We studied the KAL1 gene in a patient with KS and his family by PCR amplification and direct sequencing. A novel missense mutation (V263G) that modifies the major cell adhesion site of the anosmin-1 protein was identified. Our results suggest that this reported mutation is responsible for KS and might help to elucidate the function of an important area of the anosmin-1 protein.
Loidi
Lourdes
L
Unidad de Medicina Molecular, Universidad de Santiago de Compostela (USC) and Fundación Galega de Medicina Xenómica Sergas, Spain. lloidi@usc.es
Castro-Feijóo
Lidia
L
Barreiro
Jesús
J
Quinteiro
Celsa
C
Cabanas
Paloma
P
Varela
Ramiro
R
Alonso
Adela
A
Domínguez
Fernando
F
Pombo
Manuel
M
D000293:Adolescent; D019943:Amino Acid Substitution; D001665:Binding Sites; D015815:Cell Adhesion Molecules / Q000378:metabolism; D004247:DNA / Q000235:genetics; D016326:Extracellular Matrix Proteins / Q000235:genetics* / Q000378:metabolism*; D005353:Fibronectins / Q000378:metabolism / Q000502:physiology; D006801:Humans; D017436:Kallmann Syndrome / Q000235:genetics* / Q000473:pathology / Q000503:physiopathology; D008279:Magnetic Resonance Imaging; D008297:Male; D020125:Mutation, Missense / Q000235:genetics* / Q000502:physiology; D009419:Nerve Tissue Proteins / Q000235:genetics* / Q000378:metabolism*; D020133:Reverse Transcriptase Polymerase Chain Reaction
C076266:ANOS1 protein, human; D015815:Cell Adhesion Molecules; D016326:Extracellular Matrix Proteins; D005353:Fibronectins; D009419:Nerve Tissue Proteins; D004247:DNA