title: Haploinsufficiency of STK11 and neighboring genes cause a contiguous gene syndrome including Peutz-Jeghers phenotype.
abstract: 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 exam, further diagnostic workup with upper and lower gastrointestinal screening confirmed polyps consistent with Peutz-Jeghers syndrome. The purpose of this study is to present a full clinical description of a patient with a rare 19p13.3 chromosomal deletion and review the current literature of this newly emerging contiguous gene deletion syndrome. It also supports the screening for complications of Peutz-Jeghers syndrome in all patients with this deletion.
authors.affiliation: Hawai'i Department of Health, Honolulu, Hawai'i, USA. sxscollo@txch.org
authors.forename: Sarah
authors.initials: S
authors.lastname: Scollon
authors.forename: Kirsty
authors.initials: K
authors.lastname: McWalter
authors.forename: Keith
authors.initials: K
authors.lastname: Abe
authors.forename: Jeremy
authors.initials: J
authors.lastname: King
authors.forename: Kevin
authors.initials: K
authors.lastname: Kimata
authors.forename: Thomas P
authors.initials: TP
authors.lastname: Slavin
mesh_terms: D000091162:AMP-Activated Protein Kinase Kinases; D000293:Adolescent; D002872:Chromosome Deletion; D002888:Chromosomes, Human, Pair 19; D005260:Female; D057895:Haploinsufficiency; D006801:Humans; D010580:Peutz-Jeghers Syndrome / Q000175:diagnosis / Q000235:genetics*; D010641:Phenotype; D011127:Polyps / Q000235:genetics; D017346:Protein Serine-Threonine Kinases / Q000235:genetics*; D013270:Stomach / Q000473:pathology
chemical_list: D017346:Protein Serine-Threonine Kinases; C109790:STK11 protein, human; D000091162:AMP-Activated Protein Kinase Kinases