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Updated: Jun 21, 2025

In Vivo Functional Study of Disease-associated Rare Human Variants Using Drosophila
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A Japanese Boy with Dysmorphic Syndrome with Multiple Pituitary Hormone Deficiency and Gingival Fibromatosis Due to a

Hisakazu Nakajima1,2,3, Kazuki Kodo1, Hidechika Morimoto1,2

  • 1Department of Pediatrics, North Medical Center Kyoto Prefectural University of Medicine, Japan.

Internal Medicine (Tokyo, Japan)
|July 10, 2024
PubMed

Insights

A rare genetic condition, KCNQ1-variant dysmorphic syndrome, is identified in a boy with short stature and gingival fibromatosis. Genetic testing confirmed a KCNQ1 gene variant, linking it to multiple pituitary hormone deficiencies.

Area of Science:

  • Genetics
  • Endocrinology
  • Pediatrics

Background:

  • Gingival fibromatosis (GF) is a rare condition characterized by excessive growth of gum tissue.
  • Multiple pituitary hormone deficiencies can lead to various developmental and growth issues in children.
  • Genetic mutations are increasingly recognized as causes of complex syndromic presentations.

Purpose of the Study:

  • To identify the genetic basis of a rare syndrome presenting with gingival fibromatosis and multiple pituitary hormone deficiencies.
  • To characterize the clinical phenotype associated with a novel KCNQ1 gene variant.

Main Methods:

  • Clinical evaluation of a pediatric patient with short stature and dysmorphic features.
  • Hormonal assays to assess pituitary function.
  • Next-generation sequencing (NGS) for genetic variant identification.

Main Results:

  • The patient exhibited short stature, gingival fibromatosis, and dysmorphic features including slant optic fissures.
  • Provocative testing indicated growth hormone deficiency, central hypocortisolemia, and hypothalamic hypothyroidism.
  • NGS revealed a heterozygous KCNQ1 missense variant (p.P369L) in the patient and his mother.
  • Hypogonadotropic hypogonadism was diagnosed at age 12.

Conclusions:

  • The KCNQ1-variant dysmorphic syndrome is characterized by the coexistence of multiple pituitary hormone deficiencies and gingival fibromatosis.
  • Genetic testing for KCNQ1 variants is crucial for diagnosing this rare condition.
  • This finding expands the known spectrum of KCNQ1-related disorders.

Keywords:
KCNQ1gingival fibromatosismultiple pituitary hormone deficiencyshort stature

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