Kallmann syndrome: 14 novel mutations in KAL1 and FGFR1(KAL2): MUTATIONS IN BRIEF
Abstract
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 KAL1mutations, cleft palate and dental agenesia with FGFR1mutations.
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Mutations in KAL1 disrupt the migration of olfactory and GnRH neurons.
“Mutations in KAL1 disrupt the migration of olfactory and GnRH neurons”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [11]
KAL1 mutations are present in approximately 5-10% of patients with Kallmann syndrome, with the highest prevalence in families with X-linked inheritance.
“Mutations in KAL1 disrupt the migration of olfactory and GnRH neurons and are reported to be present in approximately 5–10% of patients with Kallmann syndrome (Table 1),7,9–11 with the highest prevalence seen in families with X-linked inheritance patterns.”
From The genetic and molecular basis of idiopathic hypogonadotropic hypogonadism (2009) · cites this paper as [11]
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References 30 · Cited by 146
- Authors
- Albuisson, J., Pêcheux, C., Carel, J.-C., Lacombe, D., Leheup, B., Lapuzina, P., Bouchard, P., Legius, E., Matthijs, G., Wasniewska, M., Delpech, M., Young, J., Hardelin, J.-P., & Dodé, C.
- Affiliations
- Institut Cochin (FR)
- Hôpital Saint-Vincent-de-Paul (FR)
- Hôpital Pellegrin (FR)
- Hospital Universitario La Paz (ES)
- Hôpital Saint-Antoine (FR)
- Universitair Ziekenhuis Leuven (BE)
- University of Messina (IT)
- Bicêtre Hospital (FR)
- Inserm (FR)
- Corresponding author
- Dodé, Catherine
- ORCID
- Venue
- Human Mutation
- Publisher
- Hindawi Limited
- Published
- 2004-12-16
- Volume
- 25
- Issue
- 1
- Pages
- 98-99
- ISSN
- 1059-7794 (ISSN-L)
- OpenAlex
- W2026500676
- Cited by
- 146
- References
- 30
- Citations by year
- 2026: 2 · 2025: 2 · 2024: 2 · 2023: 3 · 2022: 1 · 2021: 3 · 2020: 5 · 2019: 4 · 2018: 5 · 2017: 3 · 2016: 6 · 2015: 10 · 2014: 7 · 2013: 8 · 2012: 8
- FWCI
- 9.74
- Type
- journal article
- Language
- en
- Open access
- closed
- Locations
- Human Mutation (publishedVersion)
- PubMed (publishedVersion)
- Funders
- Réseau GIS hypogonadisme hypogonadotrope (INSERM)
- Topics
- Health Sciences › Medicine › Reproductive Medicine › Hypothalamic control of reproductive hormones
- Health Sciences › Medicine › Endocrinology, Diabetes and Metabolism › Pituitary Gland Disorders and Treatments
- Life Sciences › Biochemistry, Genetics and Molecular Biology › Genetics › Genetic and Clinical Aspects of Sex Determination and Chromosomal Abnormalities
- Keywords
- Kallmann syndrome, KAL1, FGFR1, novel mutations, hypogonadotropic hypogonadism, anosmia, GnRH deficiency, olfactory bulb hypoplasia, renal agenesis, cleft lip and palate, tooth agenesis, X-linked inheritance, autosomal dominant inheritance
- MeSH terms
- DNA Mutational Analysis, Female, Humans, Male, Mutation, Nerve Tissue Proteins, Extracellular Matrix Proteins, Kallmann Syndrome, Receptor, Fibroblast Growth Factor, Type 1
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