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Article

Haploinsufficiency of STK11 and neighboring genes cause a contiguous gene syndrome including Peutz-Jeghers phenotype.

American journal of medical genetics. Part A - 1 Nov 2012

Scollon Sarah, McWalter Kirsty, Abe Keith, King Jeremy, Kimata Kevin, Slavin Thomas P

Abstract excerpt

We report on clinical and molecular findings of a 15-year-old female referred to our genetics clinic for a diagnostic evaluation due to mild developmental delay, submucosal cleft palate, and seizure disorder. Chromosomal microarray technology revealed a cancer predisposition due to a terminal deletion on chromosome 19p that includes the tumor suppressor gene STK11. In addition to abnormal lip pigmentation on...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

Identifiers

PMID: 22987620
DOI: 10.1002/ajmg.a.35629

Genes

STK11

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 2 Sept 2026.

Related research

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Haploinsufficiency of STK11 and neighboring genes cause a contiguous gene syndrome including Peutz-Jeghers phenotype.PMID 22987620Read ↗

A 23-Nucleotide Deletion in STK11 Gene Causes Peutz-Jeghers Syndrome and Malignancy in a Chinese Patient Without a Positive Family History.Semantic proximity Read ↗

Microdeletion of 19p13.3 in a girl with Peutz-Jeghers syndrome, intellectual disability, hypotonia, and distinctive features.Semantic proximity Read ↗

Peutz-Jeghers syndrome is caused by mutations in a novel serine threonine kinase.Semantic proximity Read ↗

STK11/LKB1 germline mutations are not identified in most Peutz-Jeghers syndrome patients.Semantic proximity Read ↗

Gene symbol: STK11. Disease: Peutz-Jeghers Syndrome.Semantic proximity Read ↗

An exploration of genotype-phenotype link between Peutz-Jeghers syndrome and STK11: a review.Semantic proximity Read ↗

A novel mutation in STK11 gene is associated with Peutz-Jeghers Syndrome in Indian patients.Semantic proximity Read ↗

Complete germline deletion of the STK11 gene in a family with Peutz–Jeghers syndromeSemantic proximity Read ↗

A novel missense mutation of the STK11 gene in a Chinese family with Peutz-Jeghers syndrome.Semantic proximity Read ↗

A novel mutation in STK11 gene is associated with Peutz-Jeghers syndrome in Chinese patients.Semantic proximity Read ↗

Clinical and Molecular Analysis in Patients with Peutz-Jeghers Syndrome.Semantic proximity Read ↗

Different phenotypes including gynecological cancer in three female patients with Peutz-Jeghers syndrome and mutations in the STK11 gene.Semantic proximity Read ↗

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