Clinical and molecular characterization of Beckwith-Wiedemann syndrome in a Chinese population
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Ho Ming Luk
Abstract
Background:
The objective of this study was to examine the clinical and molecular features, genotype-phenotype correlation and the efficacy of different diagnostic criteria for predicting a positive molecular test in Chinese Beckwith-Wiedemann syndrome (BWS) patients.
Methods:
A retrospective tertiary-wide study was performed in Hong Kong with 27 molecularly confirmed BWS patients between January 2010 and September 2015.
Results:
It was observed that 48.1% of the BWS cases were caused by loss of methylation at differentially methylated region 2 (DMR2-LoM) of the 11p15.5 region, 11.1% by gain of methylation at differentially methylated region 1 (DMR1-GoM) of the 11p15.5 region, 33.3% by paternal uniparental disomy 11 [upd (11)pat] and 7.5% by CDKN1C mutation. Two out of 27 (7.4%) had embryonal tumors. Both belonged to the DMR1-GoM subtype with one Wilm’s tumor diagnosed at 3 months of age and the other, hepatoblastoma, diagnosed at 6 months of age. However, no genotype-phenotype correlation can be concluded by this cohort study. Finally, for different clinical diagnostic criteria, the Debaun and Tucker criteria and the Ibrahim et al. weighing score system have the best performance for predicting a positive molecular test in our Chinese BWS cohort.
Conclusions:
It is the largest study of molecularly confirmed BWS in the Chinese. Their clinical and epigenetic features are comparable with other ethnic populations.
Author contributions: The author has accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis and interpretation of data; in the writing of the report or in the decision to submit the report for publication.
References
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©2017 Walter de Gruyter GmbH, Berlin/Boston
Artikel in diesem Heft
- Frontmatter
- Editorial
- Disorders of sex development
- Original Articles
- Fertility and sexual function: a gap in training in pediatric endocrinology
- Disorders of sex development in children in KwaZulu-Natal Durban South Africa: 20-year experience in a tertiary centre
- Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development
- Sensitivity and specificity of different methods for cystic fibrosis-related diabetes screening: is the oral glucose tolerance test still the standard?
- Anti-hyperglycemic activity of Aegle marmelos (L.) corr. is partly mediated by increased insulin secretion, α-amylase inhibition, and retardation of glucose absorption
- Risk factors that affect metabolic health status in obese children
- Nocturnal levels of chemerin and progranulin in adolescents: influence of sex, body mass index, glucose metabolism and sleep
- Elevated endogenous secretory receptor for advanced glycation end products (esRAGE) levels are associated with circulating soluble RAGE levels in diabetic children
- Food exchange estimation by children with type 1 diabetes at summer camp
- Usefulness of non-fasting lipid parameters in children
- Monitoring steroid replacement therapy in children with congenital adrenal hyperplasia
- Clinical and molecular characterization of Beckwith-Wiedemann syndrome in a Chinese population
- An analysis of the sequence of the BAD gene among patients with maturity-onset diabetes of the young (MODY)
- Case Reports
- Hypogonadotropic hypogonadism in a female patient with congenital arhinia
- Transdermal testosterone gel for induction and continuation of puberty in adolescent boys with hepatic dysfunction
- Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2
- Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features
Artikel in diesem Heft
- Frontmatter
- Editorial
- Disorders of sex development
- Original Articles
- Fertility and sexual function: a gap in training in pediatric endocrinology
- Disorders of sex development in children in KwaZulu-Natal Durban South Africa: 20-year experience in a tertiary centre
- Novel mutations of the SRD5A2 and AR genes in Thai patients with 46, XY disorders of sex development
- Sensitivity and specificity of different methods for cystic fibrosis-related diabetes screening: is the oral glucose tolerance test still the standard?
- Anti-hyperglycemic activity of Aegle marmelos (L.) corr. is partly mediated by increased insulin secretion, α-amylase inhibition, and retardation of glucose absorption
- Risk factors that affect metabolic health status in obese children
- Nocturnal levels of chemerin and progranulin in adolescents: influence of sex, body mass index, glucose metabolism and sleep
- Elevated endogenous secretory receptor for advanced glycation end products (esRAGE) levels are associated with circulating soluble RAGE levels in diabetic children
- Food exchange estimation by children with type 1 diabetes at summer camp
- Usefulness of non-fasting lipid parameters in children
- Monitoring steroid replacement therapy in children with congenital adrenal hyperplasia
- Clinical and molecular characterization of Beckwith-Wiedemann syndrome in a Chinese population
- An analysis of the sequence of the BAD gene among patients with maturity-onset diabetes of the young (MODY)
- Case Reports
- Hypogonadotropic hypogonadism in a female patient with congenital arhinia
- Transdermal testosterone gel for induction and continuation of puberty in adolescent boys with hepatic dysfunction
- Long-term response to growth hormone therapy in a patient with short stature caused by a novel heterozygous mutation in NPR2
- Three cases of Japanese acromicric/geleophysic dysplasia with FBN1 mutations: a comparison of clinical and radiological features
