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Medical AI Inquiry: You was designed to assist in medical decision-making based on the provided user questions. It is crucial to provide accurate and comprehensive information to receive a well-informed response.  Labels: OBJECTIVE, METHODS, METHODS, METHODS, METHODS, METHODS, RESULTS. Meshes: Adolescent, Amino Acid Substitution, Extracellular Matrix Proteins, Female, Genes, Recessive, Genetic Carrier Screening, Humans, Kallmann Syndrome, Male, Mutation, Missense, Nerve Tissue Proteins, Pedigree, Young Adult.
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Is the KAL1 pVal610Ile mutation a recessive mutation causing Kallmann syndrome? Context: To present the clinical, genetic, biochemical, and molecular findings in two Chinese siblings with X-linked recessive Kallmann syndrome (KS). Case report. University medical center. Two Chinese siblings. Clinical evaluation, hormone assays, and gene mutation research. Endocrinologic evaluation and genetic analysis. A missense mutation of KAL1, c.1828G>A, led to pVal610Ile substitution in two brothers with KS; their mother is heterozygous for this missense mutation encoded by single-nucleotide polymorphism rs2229013.
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Mutation analysis revealed that a missense mutation of KAL1 in two brothers with KS, while their mother was heterozygous for this missense mutation encoded by the single-nucleotide polymorphism rs2229013. Variant alleles of KAL1 related to X-linked recessive KS expand the spectrum of KAL1 mutations causing KS. Final Decision: yes