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A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report.


ABSTRACT: BACKGROUND:Kabuki syndrome is characterized by distinctive facial features and varying degrees of growth retardation. It leads to malformations in skeletal, urogenital and cardiac structures; moreover, endocrine conditions such as premature thelarche, precocious puberty, growth hormone deficiency, diabetes insipidus, thyroid dysfunction and obesity have been reported. Kabuki syndrome is caused by a heterozygous mutation in the KMT2D or KDM6A genes. CASE PRESENTATION:An 11-year-old girl with the typical facial features of Kabuki syndrome visited our hospital due to her short stature. She was found to have the de novo heterozygous mutation of c.8200C?>?T, p(Arg2734*) in exon 32 of the KMT2D gene and was diagnosed with Kabuki syndrome. The patient also exhibited endocrine abnormalities such as a constitutional delay of puberty, transiently congenial hypothyroidism, obesity and growth hormone deficiency. CONCLUSIONS:This is a case of a mutation in the KMT2D gene in a girl with Kabuki syndrome who presented with endocrine symptoms (constitutional delay of puberty, hypothyroidism, obesity and growth hormone deficiency).

SUBMITTER: Moon JE 

PROVIDER: S-EPMC6007063 | biostudies-literature | 2018 Jun

REPOSITORIES: biostudies-literature

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A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report.

Moon Jung-Eun JE   Lee Su-Jeong SJ   Ko Cheol Woo CW  

BMC medical genetics 20180618 1


<h4>Background</h4>Kabuki syndrome is characterized by distinctive facial features and varying degrees of growth retardation. It leads to malformations in skeletal, urogenital and cardiac structures; moreover, endocrine conditions such as premature thelarche, precocious puberty, growth hormone deficiency, diabetes insipidus, thyroid dysfunction and obesity have been reported. Kabuki syndrome is caused by a heterozygous mutation in the KMT2D or KDM6A genes.<h4>Case presentation</h4>An 11-year-old  ...[more]

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