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Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1 ( KAL2 )
Author(s) -
Albuisson Juliette,
Pêcheux Chistophe,
Carel JeanClaude,
Lacombe Didier,
Leheup Bruno,
Lapuzina Pablo,
Bouchard Philippe,
Legius Eric,
Matthijs Gert,
Wasniewska Malgorzata,
Delpech Marc,
Young Jacques,
Hardelin JeanPierre,
Dodé Catherine
Publication year - 2005
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.9298
Subject(s) - kallmann syndrome , anosmia , hypogonadotropic hypogonadism , endocrinology , medicine , renal agenesis , agenesis , hypoplasia , biology , genetics , hormone , disease , kidney , covid-19 , infectious disease (medical specialty)
Kallmann syndrome (KAL) combines hypogonadotropic hypogonadism and anosmia. Hypogonadism is due to Gonadotropin Releasing Hormone (GnRH) deficiency and anosmia is related to hypoplasia of the olfactory bulbs. Occasional symptoms include renal agenesis, bimanual synkinesia, cleft lip palate, dental agenesis. KAL is genetically heterogeneous and two genes have so far been identified, namely KAL1 (Xp22.3) and FGFR1/ KAL2 (8p12), which underlie the X chromosome‐linked form and an autosomal dominant form of the disease, respectively. We studied a cohort of 98 unrelated Caucasian KAL patients. We identified KAL1 mutations in 14 patients, of which 7 (c.3G>A (p.M1?), g.IVS1+1G>T, c.570_571insA (p.R191fsX14), c.784G>C (p.R262P), c.958G>T (p.E320X), c.1651_1654delinsAGCT (p.P551_E552delinsSX), c.1711T>A (p.W571R)) have not been previously reported. In addition, we found FGFR1 mutations in 7 patients, namely c.303G>A (p.V102I), C.385A>C (p.D129A), c.810G>A (p.V273M), c.1093_1094delAG (p.R365fsX41), c.1561G>A (p.A520T), c.1836_1837insT (p.Y613fsX42), c.2190C>G (p.Y730X), all of which were novel mutations. In this study, unilateral renal agenesis and bimanual synkinesia were exclusively found associated with KAL1 mutations, cleft palate and dental agenesia with FGFR1 mutations. © 2004 Wiley‐Liss, Inc.