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9 results on '"Mei, Huifen"'

4. Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective study

Author

Lin, Yunting, primary, Guan, Zhihong, additional, Mei, Huifen, additional, Zhang, Wen, additional, Zhou, Zhizi, additional, Su, Ling, additional, Cheng, Jing, additional, Zheng, Ruidan, additional, Liang, Cuili, additional, Cai, Yanna, additional, Yin, Xi, additional, Wu, Dongyan, additional, Liu, Li, additional, and Zeng, Chunhua, additional

Published
2022
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6. Molecular diagnosis of maturity-onset diabetes of the young in a cohort of Chinese children

Author

Xu, Aijing, Lin, Yunting, Sheng, Huiying, Cheng, Jing, Mei, Huifen, Ting, Tzer Hwu, Zeng, Chunhua, Liang, Cuili, Zhang, Wen, Li, Cuiling, Li, Xiuzhen, Liu, Li, Xu, Aijing, Lin, Yunting, Sheng, Huiying, Cheng, Jing, Mei, Huifen, Ting, Tzer Hwu, Zeng, Chunhua, Liang, Cuili, Zhang, Wen, Li, Cuiling, Li, Xiuzhen, and Liu, Li

Abstract

Objective: The purpose of this study was to investigate the molecular basis of maturity-onset diabetes of the young (MODY) by whole-exome sequencing (WES) and estimate the frequency and describe the clinical characteristics of MODY in southern China. Methods: Genetic analysis was performed in 42 patients with MODY aged 1 month to 18 years among a cohort of 759 patients with diabetes, identified with the following four clinical criteria: age of diagnosis ≤18 years; negative pancreatic autoantibodies; family history of diabetes; or persistently detectable C-peptide; or diabetes associated with extrapancreatic features. GCK gene mutations were first screened by Sanger sequencing. GCK mutation-negative patients were further analyzed by WES. Results: Mutations were identified in 24 patients: 20 mutations in GCK, 1 in HNF4A, 1 in INS, 1 in ABCC8, and a 17q12 microdeletion. Four previously unpublished novel GCK mutations: c.1108G>C in exon 9, and c.1339C>T, c.1288_1290delCTG, and c.1340_1343delGGGGinsCTGGTCT in exon 10 were detected. WES identified a novel missense mutation c.311A>G in exon 3 in the INS gene, and copy number variation analysis detected a 1.4 Mb microdeletion in the long arm of the chromosome 17q12 region. Compared with mutation-negative subjects, the mutation-positive subjects had lower hemoglobin A1c and initial blood glucose levels. Conclusions: Most MODY cases in this study were due to GCK mutations, which is in contrast to previous reports in Chinese patients. Diabetes associated with extrapancreatic features should be a clinical criterion for MODY genetic analysis. Mutational analysis by WES provided a precise diagnosis of MODY subtypes. Moreover, WES can be useful for detecting large deletions in coding regions in addition to point mutations.

Published
2020

7. Molecular and clinical characteristics of monogenic diabetes mellitus in southern Chinese children with onset before 3 years of age

Author

Lin, Yunting, primary, Sheng, Huiying, additional, Ting, Tzer Hwu, additional, Xu, Aijing, additional, Yin, Xi, additional, Cheng, Jing, additional, Mei, Huifen, additional, Shao, Yongxian, additional, Zeng, Chunhua, additional, Zhang, Wen, additional, Rao, Min, additional, Liu, Li, additional, and Li, Xiuzhen, additional

Published
2020
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9. Clinical features and outcomes of 31 children with congenital hypothyroidism missed by neonatal screening.

Author

Xie T, Tan M, Jiang X, Feng Y, Chen Q, Mei H, Cai Y, Zou H, and Huang Y

Subjects
Child, Preschool, Dual Oxidases, Female, Humans, Infant, Newborn, Neonatal Screening, Retrospective Studies, Thyrotropin, Thyroxine therapeutic use, Congenital Hypothyroidism diagnosis, Congenital Hypothyroidism drug therapy, Congenital Hypothyroidism genetics, Premature Birth
Abstract

Objective: To investigate the clinical features and outcomes of children with congenital hypothyroidism (CH) missed by neonatal screening., Methods: The clinical and laboratory date of 31 children with CH missed by neonatal screening from February 2015 to February 2022 in Guangzhou Women and Children's Medical Center were retrospectively analyzed. Whole-exome high-throughput sequencing analysis was performed in 17 patients., Results: Among the 31 patients, 19 cases (61.3%) were preterm, 12 cases (38.7%) were term neonates. The median value of gestation age was 36 (26-40) weeks, birth weight was 2.35 (0.75-3.70) kg, diagnosed age was 20 d (7 d-4 years), dry blood spot thyrotropin was 4.18 (0.34-8.97) mU/L. Nine cases (29.0%) were same-sex twins and 4 cases (12.9%) had a family history of hypothyroidism. The initial clinical symptoms were growth retardation in 11 cases (35.5%), prolonged jaundice in 7 cases (22.6%), short stature, abdominal distension, fetal edema and goiter in 1 case (3.2%), respectively. Genetic analysis of the 17 children showed that DUOX2 gene mutations were detected in 10 cases (6 cases with biallelic mutations and 4 cases with monoallelic mutations), of whom 3 had a family history of hypothyroidism. A total of 22 patients were reevaluated at the age of 2-3 years, of whom 17 cases (77.3%) were transient CH and 5 cases (22.7%) were permanent CH. Among the 10 cases with DUOX2 gene mutations, 6 cases were transient CH, 1 case was permanent CH, and 3 cases (< 3 years old) were still under treatment with L-thyroxine., Conclusions: False negative results on neonatal screening for CH often occurs in preterm birth, low birth weight, same-sex twins, family history of hypothyroidism, and DUOX2 defects are the common molecular pathogenesis, most of whom are transient CH. Thyroid function should be evaluated in time for children with unexplained slow growth and delayed jaundice regression.

Published
2022
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