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Start Over Author "Lam ST" Journal journal of medical genetics
4 results on '"Lam ST"'

1. A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia.

Author

Tsoi H, Yu AC, Chen ZS, Ng NK, Chan AY, Yuen LY, Abrigo JM, Tsang SY, Tsui SK, Tong TM, Lo IF, Lam ST, Mok VC, Wong LK, Ngo JC, Lau KF, Chan TF, and Chan HY

Subjects
Amino Acid Sequence, Base Sequence, Brain diagnostic imaging, DNA Mutational Analysis, Exome genetics, Hong Kong, Humans, MAP Kinase Signaling System physiology, Magnetic Resonance Imaging, Middle Aged, Molecular Sequence Data, Pedigree, Radiography, Spinocerebellar Ataxias pathology, Intracellular Signaling Peptides and Proteins genetics, MAP Kinase Signaling System genetics, Microfilament Proteins genetics, Mutation, Missense genetics, Spinocerebellar Ataxias genetics
Abstract

Background: Spinocerebellar ataxias (SCAs) are a group of clinically and genetically diverse and autosomal-dominant disorders characterised by neurological deficits in the cerebellum. At present, there is no cure for SCAs. Of the different distinct subtypes of autosomal-dominant SCAs identified to date, causative genes for only a fraction of them are currently known. In this study, we investigated the cause of an autosomal-dominant SCA phenotype in a family that exhibits cerebellar ataxia and pontocerebellar atrophy along with a global reduction in brain volume., Methods and Results: Whole-exome analysis revealed a missense mutation c.G1391A (p.R464H) in the coding region of the coiled-coil domain containing 88C (CCDC88C) gene in all affected individuals. Functional studies showed that the mutant form of CCDC88C activates the c-Jun N-terminal kinase (JNK) pathway, induces caspase 3 cleavage and triggers apoptosis., Conclusions: This study expands our understanding of the cause of autosomal-dominant SCAs, a group of heterogeneous congenital neurological conditions in humans, and unveils a link between the JNK stress pathway and cerebellar atrophy., (Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.)

Published
2014
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2. Severe neonatal manifestations of Costello syndrome.

Author

Lo IF, Brewer C, Shannon N, Shorto J, Tang B, Black G, Soo MT, Ng DK, Lam ST, and Kerr B

Subjects
Amino Acid Substitution, Cardiomyopathy, Hypertrophic genetics, Craniofacial Abnormalities genetics, Craniofacial Abnormalities pathology, Female, Genes, ras, Humans, Infant, Newborn, Male, Mutation, Missense, Phenotype, Polyhydramnios genetics, Pregnancy, Syndrome, Abnormalities, Multiple genetics, Mutation, Proto-Oncogene Proteins p21(ras) genetics
Abstract

Background: Costello syndrome (CS) is due to mutations in HRAS, with the most common mutation being c.34G>A (p.G12S), found in most patients in all the published series. A small number of less common mutations have been reported., Population Studied: HRAS mutation analysis has been undertaken in 74 predominantly British patients with a possible diagnosis of CS. A HRAS mutation was found in 27 patients, 15 of whom have been previously reported. PHENOTYPE ANALYSIS: Four cases had an unusually severe phenotype, associated in three cases with two unusual mutations, c.35G>A, p.G12D in two cases and c.34G>T, p.G12C in the other. Hypoglycaemia, renal abnormalities, severe early cardiomyopathy, congenital lung and airway abnormalities, pleural and pericardial effusion, chylous ascites and pulmonary lymphangectasia are confirmed as part of the clinical spectrum seen in CS. A lung pathology resembling alveolar capillary dysplasia is reported in one case., Conclusion: These cases illustrate that the diagnosis of CS may be difficult in the newborn period, and should be considered in the differential diagnosis of the sick newborn infant with multisystem disease. Study of more cases will be required to establish if there is a definite association between severe disease and less common mutations.

Published
2008
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3. Proximal 10q trisomy: a new case with anal atresia.

Author

Lam FW, Chan WK, Lam ST, Chu WP, and Kwong NS

Subjects
Adolescent, Adult, Anal Canal abnormalities, Anal Canal surgery, Anus, Imperforate genetics, Anus, Imperforate pathology, Anus, Imperforate surgery, Child, Child, Preschool, Chromosome Banding, Female, Follow-Up Studies, Growth Disorders genetics, Growth Disorders pathology, Humans, Infant, Infant, Newborn, Karyotyping, Male, Chromosomes, Human, Pair 10 genetics, Trisomy
Published
2000
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4. Genetic services in Hong Kong.

Author

Chau AS, Lam ST, and Ghosh A

Subjects
Forecasting, Hong Kong, Humans, Personnel Staffing and Scheduling trends, Prenatal Diagnosis trends, Genetic Counseling trends, Genetic Testing trends
Published
1990
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