Genetic and Epigenetic Factors Contributing to Autism Spectrum Disorders

Autism spectrum disorders represent a group of developmental disorders with strong genetic predisposition, including numerous monogenic disorders and chromosomal abnormalities. More recently the etiology of autism spectrum disorders has expanded to include genomic copy number variants and epigenetic factors. This article will briefly review our current understanding of the genetic and epigenetic factors contributing to autism spectrum disorders as well as the direction of current and future research studies, using a case scenario.link_to_OA_fulltex

Infantile systemic hyalinosis presenting as multiple joint pain in a Pakistani infant girl

Poster Presentation (Doctor’s Session)This journal issue contain Proceedings of the CongressBACKGROUND: Infantile systemic hyalinosis (ISH) is a rare autosomal recessive disorder characterized by abnormal hyaline deposits in the papillary dermis and other tissues. It presents in early infancy with severe pain with movement, progressive joint contractures, thickened skin and hyperpigmented macules over bony prominence. Gingival hypertrophy, skin nodules, perianal masses are common but late findings. We report a female infant with ISH and subsequently confirmed to have known pathogenic mutations in the ANTXR2 ...postprin

From heterotaxy to VACTER-H syndrome: the clinical variability of ZIC3-related disorders

BACKGROUND: The ZIC3 gene functions as a transcription factor in early stages of left-right body axis formation. Mutations in ZIC3 gene cause a variety of clinical manifestations including isolated congenital heart disease (CHD), heterotaxy & other midline CNS, urogenital & hindgut malformations. We report a four generation family with X-linked heterotaxy associated with a deletion of the ZIC3 gene at ...postprin

Spinal muscular atrophy (SMA) - natural history and functional status in Hong Kong children

OBJECTIVE: To study the natural history and current functional status of children with SMA in Hong Kong. METHODS: A SMA Registry had been collected since 1984 in Duchess of Kent Children’s Hospital. Families of SMA (FSMA) has been established in 2000. A total 102 SMA cases had been collected. We analyzed 81 SMA cases (34 males; 47 females) with clinical information available in September 2002. SMA cases were classified according to classification of the International SMA Consortium. SMA type III was further …published_or_final_versio

2q23.1 microdeletion involving the MBD5 gene - large deletion associated with a relatively mild phenotype

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With others and for others: accounting for decisions about genetic testing in the Clinic

Poster PresentationWhile there are various factors influencing clients' decisions about genetic testing; testing for the sake of others is not uncommon. This paper focuses on decisions about testing (DOT) when a genetic mutation is identified in a Sudden Arrhythmia Death Syndromes (SADS) patient and it is unclear whether the mutation is the cause of the disease. Family members are then asked to consider genetic testing to ascertain the client’s genetic status and future risk. The paper examines, at the interactional level, how genetic counselors, clients and family members negotiate decisionmaking involving others. The data consists of 23 video-recorded consultations obtained from a Hong Kong hospital. Episodes of decisionmaking about testing are identified and extracted from the transcribed data. By using theme-oriented discourse analysis, the analysis focuses on the discourse strategies that participants employ to foreground the possible benefits when other family members undergo the genetic test. Preliminary findings show a disjuncture of perspectives between genetic counselors and family members in terms of the benefits of testing. While genetic counselors see testing as a means of confirming the diagnosis and managing risk, family members voice concerns about the usefulness of the test for a client's treatment. To mitigate these different perspectives on DOT, participants use a range of discourse strategies, such as contrast, foregrounding, self-and-other construction as a way of emphasizing future scenarios. This study, in sum, elucidates how other-oriented decisions are made in the clinical setting.published_or_final_versio

Restrictive dermopathy with massive thrombosis: a previously uncreognized finding

Restrictive dermopathy (RD) is a lethal genodermatosis characterized by IUGR, tight and rigid skin, prominent superficial vasculature, epidermal hyperkeratosis, typical facial features, sparse/absent eyelashes and eyebrows, thin dysplastic clavicles, pulmonary hypoplasia and arthrogryposis. It is caused by LMNA or, more frequently, ZMPSTE24 mutations. We report 2 siblings with RD and ZMPSTE24 mutations. CASE REPORT: The mother is 28y G2P1. The couple was 1st cousin of Pakistani origin. Family history was unremarkable. The 1st pregnancy resulted in IUD at 27w, preceded by decreased fetal movement, oligohydramnios and IUGR at 24w. Autopsy was inconclusive and G-banding was not possible. Placenta showed ...postprin

Clinical and genetic profile of catecholaminergic polymorphic ventricular tachycardia in Hong Kong Chinese children

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Silver-Russell syndrome in Hong Kong

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Prenatal Diagnosis of Agenesis of the Corpus Callosum and Cerebellar Vermian Hypoplasia Associated with a Microdeletion on Chromosome 1p32

We present the prenatal detection of a 1p32.1p31.3 microdeletion (3.46 Mb) by array comparative genomic hybridization (CGH) associated with fetal agenesis of the corpus callosum (ACC) and cerebellar vermian hypoplasia. Analysis of cultured amniocytes showed a normal karyotype. Our observations strengthen the association between this locus and central nervous system development. In addition, the fetus reported herein underscores the importance of array CGH analysis when ACC is detected prenatally, especially when there are additional central nervous system anomalies, to search for submicroscopic imbalances which can facilitate further management and parental counselling. Moreover, the presence of urinary tract anomalies should alert the clinician to the possibility of a 1p interstitial deletion, although the absence of such does not exclude it. Further reports will help to provide more information on the long-term outcomes of individuals with such microdeletion as there are only limited data.published_or_final_versio