exudates and Diseases-in-Twins

The National Malaysian Twin Registry was established in Royal College of Medicine, Perak, University Kuala Lumpur (UniKL) in June 2008 through a grant provided by UniKL. The general objective is to facilitate scientific research involving participation of twins and their family members in order to answer questions of health and wellbeing relevant to Malaysians. Recruitment is done via mass media, poster, and pamphlets. We now have 266 adult and 204 children twins registered. Several research projects including reproductive health study of twins and the role of co-bedding on growth and development of children are carried out. Registry holds annual activities for twins and seeks to provide health-related information for twins. We seek international collaboration.

Topics: Adolescent; Adult; Biomedical Research; Child; Child, Preschool; Cohort Studies; Diseases in Twins; Family; Female; Humans; Infant; Malaysia; Male; Patient Participation; Registries; Twins; Young Adult

Mutations of the AE1 (SLC4A1, Anion-Exchanger 1) gene that codes for band 3, the renal and red cell anion exchanger, are responsible for many cases of familial distal renal tubular acidosis (dRTA). In Southeast Asia this disease is usually recessive, caused either by homozygosity of a single AE1 mutation or by compound heterozygosity of two different AE1 mutations. We describe two unrelated boys in Sarawak with dRTA associated with compound heterozygosity of AE1 mutations. Both had Southeast Asian ovalocytosis (SAO), a morphological abnormality of red cells caused by a deletion of band 3 residues 400-408. In addition, one boy had a DNA sequence abnormality of band 3 residue (G701D), which has been reported from elsewhere in Southeast Asia. The other boy had the novel sequence abnormality of band 3 (Q759H) and profound hemolytic anemia.

Topics: Acidosis, Renal Tubular; Anion Exchange Protein 1, Erythrocyte; Diseases in Twins; Female; Genes, Recessive; Humans; Infant, Newborn; Malaysia; Male; Mutation; Pedigree

Fraternal twins of Malay descent had the Rothmund-Thomson syndrome. This is a rare, autosomal recessive disorder characterized by photosensitivity, poikiloderma, short stature, skeletal defects, and juvenile cataracts. This is the first case report of the syndrome from southeast Asia.

Topics: Adolescent; Body Height; Bone and Bones; Cataract; Diseases in Twins; Female; Fingers; Humans; Infant; Malaysia; Male; Metacarpus; Osteosclerosis; Photosensitivity Disorders; Rothmund-Thomson Syndrome; Twins, Dizygotic