Search

Background: Nance–Horan syndrome (NHS) is a rare and often overlooked X‐linked dominant disorder characterized by dense congenital cataracts, dental abnormalities, and mental retardation. The majority of NHS variations include frameshift mutations, nonsense mutations, microdeletions, and insertions. Methods: Copy number variation sequencing was performed to determine the microdeletion. The expression of NHS was detected by RT‐PCR. Four family members were tested for X chromosome inactivation. Results: In this study, all members were examined for systemic examinations and genetic testing of four members and two affected subjects are observed. We identified a heterozygous microdeletion of −0.52 Mb at Xp22.13 in a female proband presenting NHS phenotypically. The microdeletion contains the REPS2 and NHS genes and was inherited from a phenotypically normal mother. Of interest, the expression NHS of proband was reduced and the skewed X chromosome inactivation rate reached more than 85% compared with her mother and the control. It was concluded that the haploinsufficiency of the NHS gene may account for the majority of clinical symptoms in the affected subjects. The variability among female carriers presumably results from nonrandom X chromosome inactivation. Conclusion: Our findings broaden the spectrum of NHS mutations and provide molecular insight into NHS clinical prenatal genetic diagnosis. [ABSTRACT FROM AUTHOR]

Background: Patients with lung cancer suffer from significant psychological distress. The underlying theoretical model that may explain what predicts or mediates the degree of psychological distress has not been elucidated., Objectives: To describe the incidence of psychological distress in patients with lung cancer and to test a predictive theoretical model of psychological distress based on symptom burden, type D personality, social support, and intrusive thoughts., Methods: Three hundred eighty-nine patients with stages I to IV lung cancer were recruited. Participants completed a battery of scales, including measures of psychological distress, symptom burden, type D personality, perceived social support, intrusive thoughts, and demographic and clinical characteristics. The predictive theoretical model was tested using structural equation modeling., Results: Experiencing clinically significant psychological distress was reported by 63.75% of participants. Consistent with the social cognitive processing model, symptom burden, type D personality, social support, and intrusive thoughts all significantly and directly predicted the level of psychological distress in patients with lung cancer. Moreover, intrusive thoughts mediated the effects of type D personality and symptom burden on psychological distress; social support and symptom burden mediated the effects of type D personality on psychological distress., Conclusions: The majority of the participants experienced psychological distress at a clinically significant level. Intrusive thoughts and social support mediated the effects of type D personality and symptom burden on psychological distress., Implications for Practice: Patients with type D personality and symptom burden should be identified. Interventions for targeting social support and intrusive thoughts might ultimately reduce their psychological distress., Competing Interests: The authors have no conflicts of interest to disclose., (Copyright © 2020 Wolters Kluwer Health, Inc. All rights reserved.)