Mutation and Gene Copy Number Analyses of Six Pituitary Transcription Factor Genes in 71 Patients with Combined Pituitary Hormone Deficiency: Identification of a Single Patient withLHX4Deletion

Abstract

The results imply the rarity of abnormalities affecting the six genes in patients with CPHD and the significance of the gene copy number analysis in such patients.

Novel Lethal Form of Congenital Hypopituitarism Associated With the First RecessiveLHX4Mutation

“…There was a significant difference in luciferase activity between wtLHX4 cotransfection with wtPIT1 and LHX4(p.R84C) cotransfection with wtPIT1 (P Ͻ .05), indicated by single asterisk. doi: 10.1210/jc.2014-4484 press.endocrine.org/journal/jcem have included dysmorphic features, a small AP, an EPP, a poorly developed sella turcica, Chiari malformation, respiratory distress syndrome, and corpus callosum hypoplasia (5,14,16,17). Both brothers in pedigree 1 presented with panhypopituitarism (Table 1) and showed AP atrophy and an EPP, similar to previously reported carriers of LHX4 mutations.…”

High resolution array in the clinical approach to chromosomal phenotypes

“…The microdeletion in 1q25 includes the LHX4-gene, in which mutations are reported to cause variably penetrant pituitary insufficiency. Recently, Dateki et al (2010) reported on the first deletion of the gene causing combined pituitary insufficiency. The deletion in our patient is inherited from a healthy mother, however she is the shortest in her family and has mild facial features such as protruding eyes and crowded teeth.…”

Gradual Loss of ACTH Due to a Novel Mutation in LHX4: Comprehensive Mutation Screening in Japanese Patients with Congenital Hypopituitarism

“…identified a single patient with a POU1F1 mutation from a study population of 79 multiple pituitary hormone deficiency (MPHD) patients (1.2%) in The Netherlands [4], and Dateki et al . reported one patient harboring an LHX4 gross deletion from a cohort of 71 MPHD patients (1.4%) in Japan [5]. On the other hand, Reynaud et al .…”