CCCTC‐binding factor (CTCF) is an important regulator for global genomic organization and gene expression. CTCF gene had been implicated in a novel disorder characterized by intellectual disability, feeding difficulty, developmental delay and microcephaly. So far, four patients have been reported with de novo CTCF mutations. We reported three additional Chinese patients with de novo variants in CTCF. The new evidence helped to establish the clinical validity between CTCF and the emerging disorder. We described the consistent phenotypes shared by all patients and revealed additional clinical features such as delayed or abnormal teeth development and a unique pattern of the eyebrow that may help to define a potential recognizable neurodevelopmental disorder. We also reported the first CTCF patient treated with recombinant human growth hormone. Follow‐up and more case studies will further our understanding to the clinical presentations of this novel disorder and the prognosis of patients with this disorder.

Objectives: To investigate the associations of obesity with growth and puberty in children.Methods: From November 2017 to December 2019, height, weight, and Tanner stages of 26,879 children aged 3–18 years in Fuzhou, China were assessed.Results: The obese group was significantly taller than the non-obese group after age 4 years for both genders, yet there was no significant difference in height between obese and non-obese group after 15.5 years old for boys and 12.5 years old for girls. The inflection points of significant growth deceleration in obese and non-obese groups were 14.4 and 14.6 years old for boys, and 11.8 and 12.8 years old for girls, respectively. The proportions of testicular development in boys with obesity and non-obesity were 7.96% and 5.08% at 8.5–8.9 years old, respectively, while the proportions of breast development in girls were 17.19% and 3.22% at age 7.5–7.9 years old, respectively.Conclusion: Children with obesity were taller in early childhood, earlier onset of puberty and earlier cessation of growth than children with non-obesity of the same age. However, there was sex dimorphism on the effect of obesity on the incidence of precocious puberty.

BPTF gene (OMIM*601819) encodes the bromodomain PHD finger transcription factor (BPTF), the largest unit of nucleosome remodeling factor, which regulates chromatin remodeling (Stankiewicz et al., 2017). BPTF plays a key role in the differentiation of the primary germ layers and the establishment of the embryonal anterior-posterior axis (Landry et al., 2008). The BPTF gene is located on chromosome 17q24.2. The haploinsufficiency of human BPTF is known to cause neurodevelopmental disorder with dysmorphic facies and distal limb anomalies (NEDDFL, OMIM#617755), which is clinically featured by intellectual disability (ID) or developmental delay (DD), language delay, and microcephaly (Glinton et al., 2021;Stankiewicz et al., 2017). Short stature is also a phenotypic component of NEDDFL.Herein, two novel likely pathogenic variants from two families in the Chinese population are described. Treatment of their short stature with the recombinant

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