Dr. Brian Hon-Yin CHUNG
Most significant Publications
- Grafodatskaya D*, Chung BH*, Butcher DT, Turinsky AL,
Goodman SJ, Choufan S, Chen YA, Lou Y, Zhao C, Rajendram R, Abidi FE, Skinner C,
Stavropoulos J, Bondy CA, Hamilton J, Wodak S, Scherer SW, Schwartz CE and Weksberg
R. Multilocus loss of DNA methylation in individuals with mutations in the histone
H3 Lysine 4 demethylase KDM5C. BMC Medical Genomics 2013;6:1-18 [*equal
We have for the first time identified epigenetic alterations in
patient samples carrying a mutation in a gene involved in the regulation of histone
modification, implicated in a form of X-linked intellectual disability and autism
spectrum disorder (KDM5C or JARID1c). These data support the concept that DNA
methylation and H3 lysine4 methylation are functionally interdependent. The data
provide new insights into the molecular pathogenesis of intellectual disability and
our data also suggest that some DNA methylation marks identified in blood can serve
as biomarkers of epigenetic status in the brain. This work has been awarded the Best
Basic Research in the Annual Research Day, Paediatrics, Hospital for Sick Children,
- Chung BHY, Mullegama S, Marshall CR, Lionel AC,
Weksberg R, Dupuis L, Brick L, Li C, Scherer SW, Aradhya S, Stavropoulous DJ, Elsea
SH and Mendoza-Londono R. Severe intellectual disability and autistic features
associated with microduplication 2q23.1. European Journal of Human Genetics 2012;
This paper was published in a journal within quartile 1 of the category
GENETICS & HEREDITY. This is the first publication that describes the pathologic
effect of duplications of the genomic region 2q23.1, including the gene MBD5, in
neurodevelopmental phenotypes and autism. This publication summarizes the result of
the research work done during my overseas training which is now an important area of
my research. The results are the product of successful collaborations with colleagues
in several centres in Canada and the US that allowed us to perform a detailed
clinical and molecular characterization of three patients with this novel
- Grafodatskaya D, Chung BHY, Szatmari P and Weksberg R.
Autism Spectrum Disorders and Epigenetics (with Editorial Comments). Journal of the
American Academy of Child & Adolescent Psychiatry 2010;49(8):794-809.
This paper was published in the top journal of the category PEDIATRICS.
It reviewed the most up-to-date evidence about the relationship of epigenetics and
neurodevelopment in particular autism spectrum disorder. It received editorial
comments from the Journal of the American Academy of Child & Adolescent
Psychiatry in the same issue. To accelerate the understanding of the role of
epigenetics in autism etiology is identified as an emerging gap area for autism
research by the 2011 Interagency Autism Coordinating Committee Strategic Plan for
Autism Spectrum Disorder Research (http://iacc.hhs.gov/strategic-
- Fernandez BA, Roberts W, Chung BHY, Weksberg R, Meyn S,
Szatmari P, Joseph-George AM, Mackay S, Whitten K, Noble B, Vardy C, Crosbie V,
Luscombe S, Tucker E, Turner L, Marshall CR, Scherer SW. Phenotypic Spectrum
Associated with De Novo and Inherited Deletions and Duplications at 16p11.2 in
Individuals Ascertained for Diagnosis of Autism Spectrum Disorder. Journal of
Medical Genetics 2010;47:195-203.
This paper was published in a journal within quartile 1 of the category
GENETICS & HEREDITY. Chromosome 16p11.2 deletion/duplication is probably THE most
recognized copy number variations associated with susceptibility to Autism Spectrum
Disorder. This is one of the early publications regarding patients with chromosome
16p11.2 changes with very detailed phenotypic descriptions, providing important
information for the translation of important research findings into clinical patient
- Chung BHY, Hinek A, Keating S, Weksberg R, Shah
V, Blaser S, Hawkins C, Chitayat D. Overgrowth with increased proliferation of
fibroblast and matrix metalloproteinase activity related to reduced TIMP1: a newly
recognized syndrome? American Journal of Medical Genetics Part A 2012;158A(10):2373
- Pinto D, Pagnamenta AT, Klei L, Anney R, Merico D, Regan R, Conroy J,
Magalhaes TR, Correia C, Abrahams BS, Almeida J, Bacchelli E, Badeer GD, Bailey AJ,
Baird G, Battaglia A. Berney T, Bolshakova N, Bolte S, Bolton PF, Bourgeron T,
Brennan S, Brian J, Bryson SE, Carson AR, Casallo G, Casey J, Chung
BHY, ..., Betancur C. Functional impact of global rare copy number variation in
autism spectrum disorders, Nature 2010;466:368-372.
The Autism Genome Project (AGP) is a large-scale, international
collaborative genetic research project that aims to identify autism susceptibility
genes. This is its landmark study on Copy Number Variations, involving 996 ASD cases
and 1287 controls, has demonstrated a higher burden of rare, genic CNVs in patients
compared to controls and notably higher involvement of genes previously implicated in
intellectual disability. It has been elected as one of the most impactful studies in
the field of autism research by the Interagency Autism Coordinating Committee (IACC)
(http://iacc.hhs.gov/) of the US Department of Health and Human Services in
Publications in International Peer-reviewed Journals (in Index
Medicus & Pubmed)
- Chan KW, Lee TL, Chung BHY, Yang X and Lau YL
Identification of 5 novel WASP mutations in Chinese Families with Wiskott-Aldrich
Syndrome. Human Mutation 2002;20(2):151-152.
- Chung BHY, Ha SY, Chan GCF and Lau YL. Klebsiella
infection in patients with Thalassaemia. Clinical Infectious Diseases 2003;36: 575-
- Chung BHY, Wong VCN and Ip. P. Prevalence of
Neuromuscular Disease in Chinese Children: A Study in Southern China, Journal of
Child Neurology 2003;18(3): 217-219.
- Wong VCN and Chung BHY. Survey of Public Awareness,
Attitudes, and Understanding toward Epilepsy in Hong Kong, Epilepsia 2003;44(2): 268
- Khong PL, Lam BCC, Chung BHY, Wong K.Y and Ooi GC.
Diffusion-weighted MR imaging in neonatal nonketotic hyperglycinemia. American
Journal of Neuroradiology 2003;24(6):1181-1183.
- Lee WC, Leung JLS, Fung CW, Chung BHY, and Wong V.
Spectrum of Antiepileptic Drugs Hypersensitivity Syndrome: Controversy of treatment.
Journal of Child Neurology 2004;19(8):619-623.
- Chung BHY and Lau YL. Reply to Lee: Severe bacterial
infection in transfusion-dependent patients with thalassaemia major. Clinical
Infectious Diseases 2004;38(8):1195.
- Wong V, Chung BHY Hui S, Fong A, Lau C, Law B, Lo K,
Shum T and Wong R. Cerebral Palsy - Correlation of Risk factors and Functional
performance using Functional Independence Measure for Children (WeeFIM). Journal of
Child Neurology 2004;19(11):887-893.
- Chung BHY and Wong V. Pediatric Stroke Among Hong Kong
Chinese Subjects. Pediatrics 2004;114(2):e206-212.
- Ip P, Chung BHY, Wong VCN and Chan KY. Subacute
Sclerosing Panencephalitis in Children: Prevalence in South China. Pediatric
- Chung BHY, Ip P, Wong VCN, Lo JYC and Harding B. Acute
Fulminant SSPE with absent Measles and PCR studies in Cerebrospinal Fluid. Pediatric
Neurology 2004;31(3): 222-224.
- Khong PL, Zhou LJ, Ooi GC, Chung BHY, Cheung RTF and
Wong VCN. The evaluation of Wallerian degeneration in chronic paediatric middle
cerebral artery infarction using diffusion tensor MR imaging. Cerebrovascular
Diseases 2004;18(3): 240-247.
- Wong V, Hui S, Lee WC, Leung LSJ, Ho PKP, Lau WLC, Fung CW and
Chung BHY. A Modified Screening Tool for Autism - Checklist for Autism
in Toddlers (CHAT-23) for Chinese Children. Pediatrics 2004;114(2): e166-176 .
- Chung BHY, Wong V and Ip P. Spinal Muscular Atrophy:
Survival Pattern and Functional Status. Pediatrics 2004;114(5):548-553.
- Wong V, Chung BHY and Wong R. Pilot Survey of public
awareness, attitudes and understanding towards epilepsy in Hong Kong. Neurology Asia
- Chung BHY, Wat LCY, Wong V. Febrile Seizure in
Southern Chinese children: Incidence and Recurrence. Pediatric Neurology 2006;34
- Wong VCN, Chung BHY, Li S, Goh W and Lee SL. Mutation
of Gene in Spinal Muscular Atrophy Respiratory Distress Type I. Pediatric Neurology
- Wong VCN, Chung BHY. Evaluating a Child with Partial
Developmental Delay (ParDD), Global Developmental Delay (GDD)/Mental Retardation
(MR): Clinical Expertise Based or Evidence-Based? Current Pediatric Reviews 2006;2
- Chung BHY and Wong VCN. Relationship between 5 Common
Viruses and Febrile Seizure in Children. Archives of Disease in Childhood
- Chung BHY, Tsang A.M.C. and Wong V.C.N. [Letter to the
Editors] Neurologic complications in children hospitalized with influenza: comparison
between USA and Hong Kong. The Journal of Pediatrics 2007;151(5): e17-e18.
- Chung BHY, Ma ESK, Khong PL and Chan GCF. Inherited
thrombophilic factors do not increase central venous catheter blockage in children
with malignancy. Pediatric Blood & Cancer 2008;51:509-512.
- Chung BHY, Lam ST, Tong TM, Lun KS, Chan DH, Fok SF, Or
JS, Smith DK, Yang W and Lau YL. Identification of novel FBN1 and TGFBR2 mutations in
65 probands with Marfan syndrome or Marfan-like phenotypes. American Journal of
Medical Genetics 2009;149 A(7):1452-9.
- Chung BHY, Chu L, Forrest C, Silver R, Toi A, Blaser S,
Viero S, Taylor G and Chitayat D. Fetal Forehead Hemangiopericytoma. Prenatal
Diagnosis and Postnatal Outcome. Ultrasound in Obstetrics and Gynecology 2010;36
- Chung BHY, Uster-Friedberg T, Pentaz S, Blaser S,
Murphy K and Chitayat D. Enlarged parietal foramina: findings on prenatal ultrasound
and magnetic resonance imaging. Ultrasound in Obstetrics and Gynecology 2010;36
- Lehman AM, Eydoux P, Doherty D, Glass IA, Chitayat D, Chung
BHY, Langlois S, Yong SL, Lowry RB, Hildebrandt F and Trnka P. Co-occurrence
of Joubert Syndrome and Jeune Asphyxiating Thoracic Dystrophy. American Journal of
Medical Genetics (Part A) 2010;152A:1411-1419.
- Wong VCN and Chung BHY. Value of clinical assessment in
the diagnostic evaluation of Global Developmental Delay (GDD) using a Likelihood
Ratio Model. Brain & Development 2011;33:548-557.
- Chung BHY, Stavropoulos J, Marshall CR, Weksberg R,
Scherer SW and Yoon G. 2q23 de novo microdeletion involving the MBD5 gene in a
patient with developmental delay, postnatal microcephaly and distinct facial
features. American Journal of Medical Genetics (Part A) 2011;155:424-429.
- Chung BHY, Shaffer LG, Keating S, Johnson J, Casey B
and Chitayat D. From VACTEL-H to Heterotaxy: Variable Expressivity of ZIC3 - Related
Disorders. American Journal of Medical Genetics (Part A) 2011;155(5):1123-1128.
- Chung BHY, Irene Drmic, Christian R Marshall, Daria
Grafodatskaya, Melissa Carter, Bridget A Fernandez, Rosanna Weksberg, Wendy Roberts
and Stephen W Scherer. Phenotypic spectrum associated with duplication of Xp11.22-
p11.23 includes Autism Spectrum Disorder. European Journal of Medical Genetics
- Chung BHY, Fernandez B, Li C, Chitayat D. Letter to the
Editor: Correspondence: further studies on a kindred reported by Li 20098 as 'A new
syndrome of ankyloglossia and ulnar ray defects in Newfoundland kindred'. From 'new
syndrome' through EEC to ulnar mammary syndrome. Clinical Dysmorphology 2012;21:109-
- Ho ACC, Liu APY, Lun KS, Tang WF, Chan KYK, Lau EYT, Tang MHY, Tan
TY, Chung BHY. A newborn with a 790 kb chromosome 17p13.3
microduplication presenting with aortic stenosis, microcephaly and dysmorphic facial
features - Is cardiac assessment necessary for all patients with 17p13.3
microduplication? European Journal of Medical Genetics 2012;55:758-762.
- Aldinger KA, Kogan J, Kimonis V, Fernandez B, Horn D, Klopocki E,
Chung BHY, Toutain A, Weksberg R, Millen KJ, Barkovich AJ and Dobyns
WB. Cerebellar and posterior fossa malformations in pateients with autism-associated
chromosome 22q13 terminal deletion. American Journal of Medical Genetics (Part A)
- Man E, Lafferty KA, Funke BH, Lun KS, Chan SY, Chau AKT and
Chung BH. ANGS identifies TAZ mutation in a family with X-linked
dilated cardiomyopathy. British Medical Journal Case Reports. 22 Jan 2013
- Yang W, Tang H, Zhang Y, Tang X, Zhang J and Chung
BHY et al. Meta-analysis followed by replication identifies loci in or near
CDKN1B, TET3, CD80, DRAM1, and ARID5B as associated with systemic lupus erythematosus
in Asians. The American Journal of Human Genetics 2013; 92:41-51.
- Chung BHY, Luk HM, Lo IFM, Lam STS, Li RHW. A second
report of p.Pro986Leu variant in COL2A1 - phenotypic with SEDC and other forms of
type II collagenopathies. American Journal of Medical Genetics (Part A)
- Shek N, ..., Chung BHY et al. Prenatal Diagnosis of
Agenesis of the Corpus Callosum and Cerebellar Vermian Hypoplasia Associated with a
Microdeletion on Chromosome 1p32. Case Report in Perinatal Medicine ; 201;2:39-45.
- Chung BHY, Tao VQ, Tso WWY. Copy number variation and
autism: New insights and clinical implications. Journal of the Formosan Medical
Association 2013 [in-press]
- Tsang JS, Tong DKH, Chung BHY, Tang MHY, Lau ET, Chan
GCF and Law SYK. Alport's syndrome: case of a giant esophageal tumor. Esophagus
- Chan TK, Hui E, Chung BHY. A child born with Edward's
syndrome: the legal and moral duty to accede to the request for parentage
determination. Journal of Medical Ethics 2012[in press].
- Chung BHY Bradley T, Grosse-Wortmann L, Blaser S, Dirks
P, Hinek A, Chitayat D. Hand and fibrillin-1 deposition abnormalities in Loeys-Dietz
Syndrome - Expanding the Clinical Spectrum. American Journal of Medical Genetics
(Part A) American Journal of Medical Genetics (Part A) 2012 (in-press)
- Liu APY, Tang WF, Lau ETK, Chan YK, Kan SYA, Wong KY, Tso WYW, Jalal
K, Lee SL, Chau CSK and Chung BHY. Expanded Prader-Willi Syndrome Due
to Chromosome 15q11.2-14 Deletion: Report and a Review of Literature, American
Journal of Medical Genetics, Part A. 2013, 161A: 1309-1318.
- Zhang J, Zhang Y, Zhang L, Yang J, Ying D, Zeng S, Lee TL, Lau WCS,
Chan DTM, Leung AMH, Mok CC, Wong SN, Lee KW, Ho MHK, Lee PPW, Chung
BHY, Chong CY, Wong RWS, Mok TMY, Wong WHS, Lau YL, Yang W. Epistatic
Interaction between Genetic Variants in Susceptibility Gene ETS1 Correlates with IL-
17 Levels in SLE Patients, Annals of Human Genetics, 2013, 77(4): 344-350.
- Man E, Lafferty KA, Funke BH, Lun KS, Chan SY, Chau AKT and
Chung BHY. NGS identifies TAZ mutation in a family with X-linked
dilated cardiomyopathy. British Medical Journal [Case reports] 2013 (in-press)
- Zayts O, Sarangi S, Thong MK, Chung BHY, Genetic
counseling/consultation in South-East Asia: A report from the workshop at the 10th
Asia Pacific Conference on Human Genetics, Journal of Genetic Counseling [in press]
Articles in Regional Journal
- Chung BHY, Wong KY, Lee JSK, Lam BCC. Non-ketotic
Hyperglycinaemia: A Case Report and Review on Treatment. Hong Kong Journal of
Paediatrics (new series) 2002,7:152-156.
- Chung BHY, Chan GCF, Lee TL, Kwok JSY, Chiang AKS, Ho
HK, Ha SY, Lau YL. Chronic Benign Neutropenia of Infancy and Childhood in Chinese
Children. Hong Kong Medical Journal 2004;10(4):231-236.
- Chau AKT, Chung BHY, Lun KS, Cheung YF, Yung TC.
Midterm outcomes of transcatheter closure of atrial septal defect using the amplatzer
septal occulder in children. Hong Kong Journal of Paediatrics 2005;10: 251-256.
- Chung BHY, Lee TL, Chan CF, Chiang A, Chan KW, Ha SY,
Lau YL. Haematopoietic stem cell transplant for Wiskott-Aldrich syndrome. Hong Kong
Journal of Paediatrics (new series) 2006;11:186-190.
- Liu APY, Ng YK, Hui PW, Lau ETK., Tang MHY, Chung BHY.
Achondroplasia -Clinical Quiz - What is the Diagnosis? Hong Kong Journal of
Paediatrics (new series) 2011;16:188.
- Chung BHY, Ip P, Chow CB, Chin R, Lau YL and Koren G.
Teratology and Developmental Pharmacology: Why should Paediatricans Care? Hong Kong
Journal of Paediatrics (new series) 2011;16:264-272.
- Liu APY, So JCC, Lam CCK, Ha SY, Chan GCF, Chung BHY.
Osteopetrosis -What is the Diagnosis? Hong Kong Journal of Paediatrics (new series)
- Liu APY, Oakhill K, Chan GCF and Chung BHY. Tuberous
sclerosis -What is the Diagnosis? Hong Kong Journal of Paediatrics (new series)
- Liu APY, Chung BHY and Yung TC. Long QT syndrome - What
is the Diagnosis? Hong Kong Journal of Paediatrics (new series) 2012;17:130.
- Leung WY, Liu APY and Chung BHY. Amyoplasia congenital
- What is the Diagnosis? Hong Kong Journal of Paediatrics (new series) 2012;1
- Ho ACC, Chan SY, Chow PC, Wong KT, Lun KS, Lo IFM, Lam STS, Chau KT,
Lau YL, Chung BHY. Two Chinese Patients with Loeys-Dietz Syndrome: A
Connective Tissue Disorder with Marfan-like Features and Vasculopathy. Journal of
Paediatrics (new series) 2012;17:248-253.
- Leung WY, Ip JKJ, Chung BHY. Vein of Galen Malformation
- What is the Diagnosis? Hong Kong Journal of Paediatrics (new series) 2012;17:258-
- Leung WY, Liu APY, Chung BHY. Osteogenesis imperfect -
What is the Diagnosis? Hong Kong Journal of Paediatrics (new series) 2013;18:182.
*****Since 2011, I have been submitting interesting cases I have seen in
my clinical genetics practice for clinical quizzes in the Hong Kong Journal of
Paediatrics, on a voluntary basis. I believe that clinical quiz is a very convenient
way of education to remind the busy paediatricians on important genetic conditions
that they may see in their practice e.g. Achondroplasia in newborn, tuberous
sclerosis, and long QT syndrome. So far 7 cases have been published and one more on
osteogenesis imperfect has just been published.