• PMID: 18723471
• Gene Name: PROKR2
• Condition: Kallmann syndrome
• Mutation: T-to-G transversion in exon 2 (c.518T>G) of the PROKR2
• Population size: 24
• Population details: 24 Kallmann syndrome
• Sex: Male, Female
• Infertility type: Male infertility, Female infertility
• Associated genes: FGFR1, PROKR2, KAL, PROK2
• Other associated phenotypes: Kallmann syndrome

Genetic analysis in patients with Kallmann syndrome: coexistence of mutations in prokineticin receptor 2 and KAL1

Canto P, Munguía P, Söderlund D, Castro JJ, Méndez JP.

Kallmann syndrome (KS) is characterized by the association of hypogonadotropic hypogonadism and anosmia or hyposmia. To date, 4 different genes have been identified as responsible for the presence of KS; however, in many cases no mutations have been found in any of these genes. Herein, we report the molecular findings regarding the analysis of fibroblast growth factor receptor 1 (FGFR1), prokineticin receptor 2 (PROKR2), and prokineticin (PROK2) in patients with KS. Twenty-four patients with KS were studied in whom mutations in KAL1 had been investigated previously. Polymerase chain reaction products from FGFR1, PROKR2, and PROK2 were sequenced and mutations were sought in the open reading frame of the 3 genes. Two patients presented a heterozygous T-to-G transversion in exon 2 (c.518T>G) of the PROKR2, which results in a leucine-to-arginine substitution at codon 173. Our results strengthen the hypothesis of possible digenic inheritance in some patients with KS. Likewise, our data extend previous reports demonstrating that PROKR2 plays a role in the etiology of this syndrome. FAU - Canto, P AU - Canto P AD - Unidad de Investigación Médica en Biología del Desarrollo, Centro Médico Nacional Siglo XXI, Coordinación de Investigación en Salud, Instituto Mexicano del Seguro Social, México, DF, México. FAU - Munguía, P AU - Munguía P FAU - Söderlund, D AU - Söderlund D FAU - Castro, J J AU - Castro JJ