Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.

doi:10.1038/s41467-017-01429-z

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Article

Two missense mutations in KCNQ1 cause pituitary hormone deficiency and maternally inherited gingival fibromatosis.

Nature communications - 3 Nov 2017

Tommiska Johanna, Känsäkoski Johanna, Skibsbye Lasse, Vaaralahti Kirsi, Liu Xiaonan, Lodge Emily J, Tang Chuyi, Yuan Lei, Fagerholm Rainer, Kanters Jørgen K, Lahermo Päivi, Kaunisto Mari, Keski-Filppula Riikka, Vuoristo Sanna, Pulli Kristiina, Ebeling Tapani, Valanne Leena, Sankila Eeva-Marja, Kivirikko Sirpa, Lääperi Mitja, Casoni Filippo, Giacobini Paolo, Phan-Hug Franziska, Buki Tal, Tena-Sempere Manuel, Pitteloud Nelly, Veijola Riitta, Lipsanen-Nyman Marita, Kaunisto Kari, Mollard Patrice, Andoniadou Cynthia L, Hirsch Joel A, Varjosalo Markku, Jespersen Thomas, Raivio Taneli

Abstract excerpt

Familial growth hormone deficiency provides an opportunity to identify new genetic causes of short stature. Here we combine linkage analysis with whole-genome resequencing in patients with growth hormone deficiency and maternally inherited gingival fibromatosis. We report that patients from three unrelated families harbor either of two missense mutations, c.347G>T p.(Arg116Leu) or c.1106C>T p.(Pro369Leu), in...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 29097701
DOI: 10.1038/s41467-017-01429-z
PMCID: PMC5668380

Genes

KCNQ1
GHRH

Variants

Provenance

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Source receipt: pubmed, retrieved 5 Sept 2026.

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