The CTNNB1 gene encode the β-catenin protein which is a core unit of the cadherin/catenin multiprotein complex. The loss-of-function mutation of the CTNNB1 gene recently has been confirmed as a cause of intellectual disability. Previous studies have found that patients with CTNNB1 gene mutation may have other clinical manifestation such as microcephaly, abnormal facial features, motor and language delays, and mild visual defects. Here, we reported a 27-year-old Chinese pregnant woman with a severe intellectual disability and serious visual defects who was detected with a novel splice mutation (c.734+1G>A) in CTNNB1 gene by whole-exome sequencing and confirmed by Sanger sequencing. Further investigation showed that the variant was inherited from her mother with similar phenotypes. This report not only helps to expand the mutant spectrum of the CTNNB1 gene but also prompts a new insight into genetic diagnosis in patients with both serious intellectual disability and visual defects. Electronic supplementary material The online version of this article (10.1007/s10072-019-03823-5) contains supplementary material, which is available to authorized users.

Background Thyroid function is widely considered a lipid metabolism regulator. However, studies on lipid metabolism in pregnant women with low free thyroxine (FT4) levels are limited and inconclusive. Furthermore, the association between maternal FT4 deficiency and adverse lipid metabolic parameters is unknown. Therefore, we aimed to investigate this association and the effects of levothyroxine (L-T4) treatment on these metabolic indicators. Methods This retrospective study included 164 patients with isolated hypothyroidism (IH) (FT4 levels below the 5th percentile with normal thyroid stimulating hormone levels according to the gestational-specific reference range) and 407 euthyroidism patients (control group who had regular antenatal examinations at Zhejiang Provincial People's Hospital, Hangzhou, China) between January 1, 2019, and December 31, 2020. Patients with IH were divided into levothyroxine (L-treatment group, n = 77) and dietary iodine supplement treatment groups (dietary treatment group, n=87) according to the hospital’s treatment policy and clinical experience. The intervention lasted for at least 8 weeks. Metabolic indicators, including thyroid function and lipid parameters, were collected at least twice before and after the intervention. Other data collected included maternal age, history of abortion, prepregnancy BMI, and gestational weight gain (Fig. 1). Results Compared with the control group, Patients with IH had a higher degree of dyslipidemia, reflected in elevated total cholesterol (TC), triglycerides (TG), low-density lipoprotein cholesterol (LDL-C), and apolipoprotein B (Apo B) levels. In IH patients, an inverse correlation was found between FT4 and TG levels, which remained after adjusting for prepregnancy BMI. The L-treatment group demonstrated a significantly slower rate of hypercholesterolemia progression during pregnancy than the dietary treatment group. In addition, there was a relationship between the therapeutic effect and the degree of disease, with the main factors being FT4, TSH and TG levels prior to starting treatment. Conclusions Low FT4 levels were associated with elevated blood lipid levels. Serum FT4 and lipid levels in patients could be improved by medical intervention.

Backgroud: Thyroid function was widely considerated as one of regulators in lipids metabolism. Studies on lipids metabolism in the pregnant women with low FT4 levels are few and inconclusive. Because it is not known whether maternal FT4 deficiency during pregnancy is associated with adverse metabolic parameters, our study aimed to further investigate the association between maternal FT4 levels and lipids profile and the therapeutic effects of levothyroxine treatment(L-T4) on these lipids profile.Methods: This retrospective study comprised 164 IH patients(FT4 levels below the 5th percentile with normal serum thyroid-stimulating hormone(TSH) levels according to the gestational-specific reference range established by Zhejiang Provincial People's Hospital previously) and 208 euthyroidism(CON group) who had regular antenatal checks at this hosptial from 2019 to 2021. IH patients were divided into levothyroxine treatment group(Treatment group, n=77) and dietary iodine supplement group(Non-Treatment group, n=87) owing to the hospital’s treatment policy and clinical experience. The intervention lasted at least 4 weeks. Metabolic parameters, including thyroid function and lipids parameters, were collected at least two times before and after the intervention. Several general characteristics were included likewise, such as maternal age, history of abortion, progestation body mass index(BMI) and gestational weight gain(Fig. 1). Results: Compared with the CON group, the IH group displayed higher levels of dyslipidaemia, reflected in elevated total cholesterol(TC), triglycerides(TG), low-density lipoprotein cholesterol(LDL-C), and apolipoprotein B(Apo B). In IH patients, a significant and negative correlation was found between FT4 and TG levels, which remained after adjusting for progestation BMI. After levothyroxine treatment, the Treatment group demonstrated a significantly slower rate of progression of hypercholesterolaemia during pregnancy. In addition, there was a relationship between the therapeutic effect and the degree of disease, with the main factors being FT4, TSH and TG levels prior to starting treatment. Conclusions: Low FT4 level status is associated with elevated blood lipids. Thyroid function and lipid levels could be improved to some extent after medical intervention in IH patients.