title: LHX4 Gene Alterations: Patient Report and Review of the Literature.
abstract: LHX4 mutations are rare in combined pituitary hormone deficiency, and even rarer in isolated GHD. We describe a 14 years old boy who was referred for investigation of short stature. Convergent strabismus, nystagmus was present. At the age of 5 years his gait was unstable. A progressive myopathy ensued. Tests of pituitary reserve showed partial IGHD (8.2 ng/ml). Other pituitary hormones were within normal range. Muscle biopsy showed congenital myopathy of undefined etiology. MRI of the brain revealed the empty sella syndrome. Targeted resequencing with a panel containing probe sets for enrichment and analysis of > 4,800 clinically relevant genes, targeting 12Mb of the human genome revealed the c.250C>T (R84C) LHX4 mutation. His father is healthy, with no myopathy or pituitary deficiencies, but has the same LHX4 mutation. This report extends the range of phenotypes associated with LHX4 gene mutations. To the best of our knowledge, we are the first to report on congenital myopathy in an LHX4 gene mutation. Forthwith, we offer a comprehensive review of the patients published so far with their clinical and genetic characteristics.
authors.forename: Zoran
authors.initials: Z
authors.lastname: Gucev
authors.forename: Velibor
authors.initials: V
authors.lastname: Tasic
authors.forename: Dijana
authors.initials: D
authors.lastname: Plaseska-Karanfilska
authors.forename: Marina Krstevska
authors.initials: MK
authors.lastname: Konstantinova
authors.forename: Ana
authors.initials: A
authors.lastname: Stamatova
authors.forename: Marija
authors.initials: M
authors.lastname: Dimishkovska
authors.forename: Nevenka
authors.initials: N
authors.lastname: Laban
authors.forename: Momir
authors.initials: M
authors.lastname: Polenakovic
mesh_terms: D000293:Adolescent; D006801:Humans; D060850:LIM-Homeodomain Proteins / Q000235:genetics*; D008297:Male; D009135:Muscular Diseases / Q000175:diagnosis* / Q000235:genetics*; D009154:Mutation / Q000235:genetics*; D014157:Transcription Factors / Q000235:genetics*
chemical_list: C486362:LHX4 protein, human; D060850:LIM-Homeodomain Proteins; D014157:Transcription Factors