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Brian Chung
MBBS (HK 1999), MRCPCH (UK 2003), FHKAM (Paediatrics 2006), FCCMG (Clinical
Genetics 2010), MSc Genomics and Bioinformatics (HK 2013), FRCPCH (UK, 2018),
Specialist, Genetics and Genomics (Paediatrics, HK 2018)
Previous Academic Positions:
2000 – 2010 Clinical Assistant Professor, Department of Paediatrics & Adolescent Medicine
Present Academic Position:
Clinical Associate Professor, Department of Paediatrics & Adolescent Medicine, Department
of Obstetrics & Gynaecology; Subtheme coordinator (Genetics of Disorders), Centre of
Reproduction, Growth & Development; Scientific staff, Centre for Genomic Sciences; LKS
Faculty of Medicine, The University of Hong Kong
Previous Relevant Research Work:
Genomics (WGS/WES) and epigenetics in rare diseases, genetic counselling in Chinese
Most significant Publications:
1. Tao V, Chan KYK, Chu YWY, Mok GTK, Tan TY, Yang WL, Lee SL, Tang WF, Tso WWY,
Lau ET, Kan ASY, Tang MH, Lau YL, Chung BHY. The clinical impact of chromosomal
microarray on paediatric care in Hong Kong. PLOS One 2014 ;9(10):e109629
This paper was published in PLOS one of IF: 3.234. This is the first study in which aCGH
is used as first tier evaluation for children with unexplained, DD, ASD, MCAs in Hong Kong.
We have a diagnostic yield comparable to international figures. Moreover 75% of positive
results are clinically actionable. The study is awarded with the Outstanding Dissertation
Prize by the Hong Kong College of Paediatricians in 2016. [Dr V Tao] [Impact factor:
2. Choufani, S, Cytrynbaum C, Chung BHY, Turinsky A, Grafodatskaya D, Chen YA, Cohen
A, Dupuis L, Butcher D, Siu MT, Luk HM, Lo I, Lam S, Caluseriu O, Stavropoulos D,
Reardon W, Mendoza-Londono R, Brudno M, Gibson W, Chitayat D, Weksberg R. NSD1
mutations generate a genome-wide DNA methylation signature. Nature Communications
2015;6:10207. [doi:10.1038/NCOMMS10207]
This is the first study reporting NSD1 specific DNA methylation signature in Sotos Syndrome
and that loss of function mutation in NSD1 can deregulate the transcriptional balance of key
developmental genes. My role is to recruit & analyse a Chinese-specific cohort of patients
with Soto Syndrome for validation of finding in the primary cohort. The DNA methylation
signature has great potential to be used as functional validation for novel variants with
unknown significance in Sotos Syndrome as well as other epigenetic developmental
syndromes. [Impact factor: 11.329]
3. Yeung KS, Chung BHY, Choufani S, Mok MY, Wong WL, Mak CCY, Yang WL, Lee
PPW, Wong WHS, Chen YA, Grafodatskaya D, Wong RWS, Lau CS, Chan TM, Weksberg
R, Lau YL. Genome-wide DNA methylation analysis of Chinese patients with systemic lupus erythematosus identified hypomethylation in genes to type I interferon pathway.
PLOS One 2017, 12(1): e0169553. doi:10.1371/journal.pone.0169553
Using genome-wide DNA methylation approach, we identified important genes that are
dysmethylated in SLE patients. We identified a specific DNA methylation that type I interferon
related genes are hypomethylated, and we were able to confirm and validated our findings in
larger cohort of patients using targeted bisulfite pyrosequencing. This confirmed the
importance of type I interferon in SLE
4. Mak CCY, Chow PC, Liu APY, Chan KYK, Chu YWY, Mok GTK, … Chung BHY. De
novo large rare copy-number variations contribute to conotruncal heart disease in Chinese
patients. Npj Genomic Medicine 2016;1, 16033.
We looked for copy number variations (CNVs) in 116 Chinese patients with malformations
of the outflow tracts of the heart, focusing only on deletions or duplications that were over
500,000 DNA letters long and found in less than 1% of individuals from a larger cohort of
Caucasian and Singaporean individuals with the same heart anomalies. We identified 10
such CNVs, three of which had never been documented clinically and occurred in gene
regions linked to cardiac development. The research suggests that East Asians and
Europeans harbor different CNVs responsible for congenital heart disease, but larger
studies are needed to confirm the ethnic differences -------- the manuscript was published
with an editorial summary.
5. Leung GKC, Ying D, Mak CCY, Chen XY, Xu W, Yeung KS, Wong WL, Chu YWY, Mok
GTK, Chau CSK, McLuskey J, Ong WPT, Leong HY, Chan KYK, Yang WL, Chen JH, Li
AM, Sham PC, Lau YL, Chung BHY, (Lee SL - corresponding author) . CFTR founder
mutation causes protein trafficking defects in Chinese patients with cystic fibrosis.
Molecular Genetics & Genomic Medicine 2016. doi: 10.1002/mgg3.258
In this publication, we identified a founder CFTR mutation p.I1023R in the southern China
region, and delineated the mutation spectrum of cystic fibrosis patients in Hong Kong. the
Development of personalised medicine is foreseeable, based on the functional studies shown
in this study. Identifying these Chinese specific mutations is also important for the
international community, as currently, standard genetic tests which do not include these
mutations will miss the molecular diagnosis
6. Mak ASL, Chiu ATG, Leung GKC, Mak CCY, Chu YWY, Mok GTK, Tang WF, Chan
KYK, Tang MHY, Lau ETK, So KW, Tao VQ, Fung CW, Wong VCN, Uddin M, Lee SL,
Marshall CR, Scherer SW, Kan ASY, Chung BHY. Use of clinical chromosomal microarray in Chinese patients with autisum spectrum disorder – implications of a copy number variation
involving DPP10. Molecular Autism 2017; 8:31
The single-center study focus on the clinical application of aCGH in autistic individuals in a
predominantly Southern Chinese population. This is also the first report on a
Chinese-specific DPP10 copy-number variation in normal control subjects, supported by
extensive literature and database search.
7. Yeung KS, Tso WWY, Ip JJK, Mak CCY, Leung GKC, Tsang MHY, Ying D, Pei SLC, Lee
SL, Yang W, Chung BHY. Identification of mutations in the PI3K-AKT-mTOR signaling
pathway in patients with macrocephaly and developmental delay and/or autism. Molecular
Autism 8:66. Doi: 10.1186/s13229-017-0182-4
This study illustrated that in patients with autism and/or developmental delay who also have
macrocephaly, mutations in the PI3K-AKT-mTOR signaling pathway can be identified in
nearly half of them. Both germline and somatic mosaicism can be the cause. This study
showed that genetic testing should not be limited to PTEN, but also other genes in the
PI3K-AKT-mTOR signaling pathway. In addition, sequencing should be performed with
higher sequencing depth and in other tissues in order to detect low level of mosaicism.
8. Chiu ATG*, Pei SLC*, Mak CCY, Leung GKC, Yu MHC, Lee SL, Vreeburg M, Pfundt R,
van der Burgt I, Kleefstra T, Frederic TM, Nambot S, Faivre L, Bruel AL, Rossi M, Isidor B,
Küry S, Cogne B, Besnard T, Willems M, Reijnders MRF, Chung BHY. Okur-Chung
neurodevelopmental syndrome: Eight additional cases with implications on phenotype and
genotype expansion. Clinical Genetics 2018;93:88-890. doi:10.1111/cge.13196. PMID:
29240241 *[These author contribute equally]
This is the largest case series (14 cases) with clinical photo of 5 patients suffered from a rare
neurodevelopmental condition, called Okur-Chung syndrome. The manuscript highlighted the
recognizable facial features and first demonstrated a phenotype expansion to male subjects.
The recommendations on future management made for better clinical workup and the spatial
characteristics of the mutations discovered will be valuable for the future management and
the functional studies.
9. Leung GKC, Luk HM, Tang VHM, Gao WW, Mak CCY, Yu MHC, Wong WL, Chu YWY,
Yang W, Wong WHS, Ma ACH, Leung AYH, Jin DY, Chan KYK, Allanson J, Lo IFM,
Chung BHY. Integrating functional analysis in the next-generation sequencing diagnostic
pipeline of RASopathies. Scientific Reports 2018:8(1): 2421.
doi:10.1038/s41598-018-20894-0. The publication looked into the potential of an integrated pipeline combining NGS and the
functional assessment of variants for the diagnosis of RASopathies. In these patients, we
performed a genetic analysis of genes associated with RASopathies using a multigene NGS
panel and Sanger sequencing. For the VUSs, we evaluated evidence from functional data
using in vitro dual luciferase assay and in vivo transient expression of RNA in zebrafish
embryos . We showed that integration of functional analysis improved the diagnostic yield of
RASopathies-associated gene panel from 31.7% to 36.5%.
10. Yeung KS, Ho MSP, Lee SL, Kan ASY, Chan KYK, Tang mHY, Mak CCY, Leung GKC,
So PL, Pfundt R, Marshall CR, Scherer SW, Choufani S, Weksberg R, Chung BHY,
Paternal uniparental disomy of chromosome 19 in a pair of monochorionic diamniotic twins
with dysmorphic features and developmental delay. Journal of Medical Genetics 2018;0(1-6)
doi: 10.1136/jmedgenet-2018-105328
11. Mak CCY, Leung GKC, Mok GTK, Yeung KS, Yang WL, Fung CW, Chan SHS, Lee SL,
Lee NC, Pfundt R, Lau YL Chung BHY. Exome sequencing for paediatric-onset diseases:
impact of the extensive involvement of medical geneticists in the diagnostic odyssey. Npj
Genomic Medicine 2018;3:19 doi: 10.1038/s41525-018-0056-5
12. Chiu ATG, Chung CCY, Wong WHS, Lee SL, Chung BHY. Healthcare burden of rare
diseases in Hong Kong – adopting ORPHAcodes in ICD-10 based healthcare administrative
datasets. Orphanet Journal of Rare Diseases 2018:12:147 [doi:







日期 时间 会场 Session 角色 讲题
2021-12-11 16:05-16:25 内分泌专场 Endocrinology

内分泌专场 下午 Endocrinology (p.m)

讲者 Speaker MN1的C末端和N末端截断突变导致两种不同的神经发育表型C terminal and N terminal truncating mutations in MN1 lead to two distinct neurodeveelopmental phenotypes
2021-12-11 17:05-17:20 内分泌专场 Endocrinology

内分泌专场 下午 Endocrinology (p.m)

讨论 Discussant 讨论Discussion
2021-12-12 16:05-16:25 罕见病专场 Rare Diseases

罕见病专场 下午 Rare Diseases(p.m.)

讲者 Speaker 我们所了解的香港罕见病情况Rare disease in Hong Kong - what have we learnt so far