ArticleBMC medical genetics2018
A de novo KMT2D mutation in a girl with Kabuki syndrome associated with endocrine symptoms: a case report.
Article in BMC medical genetics, 2018. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 13 papers.
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Who cites it
13 citing papers in PubMed, 22 citations in OpenAlex.
- Endocrine Disorders in Patients With Inborn Errors of Immunity.Journal of Korean medical science · 2025Article
- Case report: Kabuki syndrome and persistent hypoglycemia in neonates.Journal of family medicine and primary care · 2024Article
- Premature Thelarche: An Updated Review.Current pediatric reviews · 2024Review
- Inactivating NHLH2 variants cause idiopathic hypogonadotropic hypogonadism and obesity in humans.Human genetics · 2022Article
- Clinical heterogeneity of Kabuki syndrome in a cohort of Italian patients and review of the literature.European journal of pediatrics · 2022Review
- Epigenetic interaction between UTX and DNMT1 regulates diet-induced myogenic remodeling in brown fat.Nature communications · 2021Article
- What Every Internist-Endocrinologist Should Know about Rare Genetic Syndromes in Order to Prevent Needless Diagnostics, Missed Diagnoses and Medical Complications: Five Years of 'Internal Medicine for Rare Genetic Syndromes'.Journal of clinical medicine · 2021Article
- Epigenetic regulation of energy metabolism in obesity.Journal of molecular cell biology · 2021Review
- Kabuki Syndrome: Identification of Two Novel Variants inMolecular syndromology · 2021Article
- Peripheral Precocious Puberty of Ovarian Origin in a Series of 18 Girls: Exome Study Finds Variants in Genes Responsible for Hypogonadotropic Hypogonadism.Frontiers in pediatrics · 2021Article
- Article
- Capillary malformations in a child with Kabuki syndrome: A case report.JAAD case reports · 2019Article
- CUTTING EDGE TRIO-WGS IN RARE GENETIC SYNDROME DIAGNOSIS.Acta endocrinologica (Bucharest, Romania : 2005)Article
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Authors and funding
3 authors at 1 institution in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundKabuki 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.
conclusionsThis 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).
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