RESUMEN
PURPOSE: This study aimed to describe the phenotypic and molecular characteristics of ARCN1-related syndrome. METHODS: Patients with ARCN1 variants were identified, and clinician researchers were connected using GeneMatcher and physician referrals. Clinical histories were collected from each patient. RESULTS: In total, we identified 14 cases of ARCN1-related syndrome, (9 pediatrics, and 5 fetal cases from 3 families). The clinical features these newly identified cases were compared to 6 previously reported cases for a total of 20 cases. Intrauterine growth restriction, micrognathia, and short stature were present in all patients. Other common features included prematurity (11/15, 73.3%), developmental delay (10/14, 71.4%), genitourinary malformations in males (6/8, 75%), and microcephaly (12/15, 80%). Novel features of ARCN1-related syndrome included transient liver dysfunction and specific glycosylation abnormalities during illness, giant cell hepatitis, hepatoblastoma, cataracts, and lethal skeletal manifestations. Developmental delay was seen in 73% of patients, but only 3 patients had intellectual disability, which is less common than previously reported. CONCLUSION: ARCN1-related syndrome presents with a wide clinical spectrum ranging from a severe embryonic lethal syndrome to a mild syndrome with intrauterine growth restriction, micrognathia, and short stature without intellectual disability. Patients with ARCN1-related syndrome should be monitored for liver dysfunction during illness, cataracts, and hepatoblastoma. Additional research to further define the phenotypic spectrum and possible genotype-phenotype correlations are required.
Asunto(s)
Catarata , Enanismo , Hepatoblastoma , Discapacidad Intelectual , Neoplasias Hepáticas , Micrognatismo , Niño , Femenino , Retardo del Crecimiento Fetal/genética , Humanos , Discapacidad Intelectual/genética , Masculino , Fenotipo , SíndromeRESUMEN
The present data is reported in the article "Regulatory Focus and Regulatory Mode - Keys to Narcissists' (Lack of) Life Satisfaction?" (Hanke et al., in press) [1]. The two data sets represent answers from two German samples. Data were collected via self-report questionnaires using EFS survey from QuestBack Unipark. The surveys included self-questionnaires of narcissistic grandiosity, narcissistic vulnerability, regulatory focus, regulatory mode, self-esteem, life-satisfaction, and demographic information.
