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Updated: Sep 10, 2025
Multifocal Electroretinograms
Published on: December 4, 2011
Further delineation of ERF-related Chitayat syndrome
Feng Zhu1, Yu Zhang2, Kaixuan Wang3
1Department of Child Healthcare, The Third Clinical Institute Affiliated to Wenzhou Medical University, Wenzhou People's Hospital, Wenzhou Maternal and Child Health Care Hospital, The Third Affiliated Hospital of Shanghai University, Wenzhou, 325000, Zhejiang, China; Department of Endocrinology, Children's Hospital of Zhejiang University School of Medicine. National Clinical Research Center for Child Health, Hangzhou, Zhejiang, 310000, China.
Abstract:
Chitayat syndrome (CHYTS) is an autosomal dominant disorder caused by variants in the ETS2 repressor factor (ERF) gene, located on 19q13.2. This gene encodes the ERF protein. The syndrome is extremely rare, with only 13 patients reported to date. We present a patient of CHYTS resulting from a c.1201_1202del (p.Lys401Glufs∗10) frameshift variant in the ERF (NM_001429.3) gene. The patient, a 10-year-old girl, exhibited typical features of the syndrome such as short stature, facial dysmorphism, and early developmental delay. She was treated with recombinant human growth hormone for ∼5 years due to her short stature. During treatment, no complications such as increased intracranial pressure, hypothyroidism, or pancreatic dysfunction were noted. However, the growth response was suboptimal, with a total height increase of 25.4 cm. This patient provides valuable insights into the clinical manifestations and treatment outcomes associated with ERF(NM_001429.3) gene variants, contributing to the existing knowledge and potentially aiding clinicians in understanding similar patients.
