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Fertil Steril. 2013 May;99(6):1720-3. doi: 10.1016/j.fertnstert.2013.01.099. Epub 2013 Feb 11.

The KAL1 pVal610Ile mutation is a recessive mutation causing Kallmann syndrome.

Author information

1
Department of Urology, TongJi Hospital, TongJi Medical College, Huazhong University of Science and Technology, Hubei, Wuhan, People's Republic of China. zhang_40_1@163.com

Abstract

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.

CONCLUSION(S):

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.

[Indexed for MEDLINE]

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