Cargando…
AB132. The KAL1 pVal610Ile mutation is a recessive mutation causing Kallmann syndrome
OBJECTIVE: To present the clinical, genetic, biochemical, and molecular findings in two Chinese siblings with X-linked recessive Kallmann syndrome (KS). DESIGN: Case report. SETTING: University medical center. PATIENT(S): Two Chinese siblings. INTERVENTION(S): Clinical evaluation, hormone assays, an...
Autores principales: | , , , , |
---|---|
Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
AME Publishing Company
2014
|
Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4708518/ http://dx.doi.org/10.3978/j.issn.2223-4683.2014.s132 |
Sumario: | OBJECTIVE: To present the clinical, genetic, biochemical, and molecular findings in two Chinese siblings with X-linked recessive Kallmann syndrome (KS). DESIGN: Case report. SETTING: University medical center. PATIENT(S): Two Chinese siblings. INTERVENTION(S): Clinical evaluation, hormone assays, and gene mutation research. MAIN OUTCOME MEASURE(S): Endocrinologic evaluation and genetic analysis. RESULT(S): 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. CONCLUSIONS: 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. |
---|