Year: 2004
Type: dissertation
Abstract: Acanthocytosis a disorder characterized by abnormal red blood cells with multiple thorny projections or spicules Alexithymia inability to identify own and others feelings and thus inability to communicate about them Ataxia incoordination and unsteadiness due to the brain's failure to regulate the body's posture and regulate the strength and direction of limb movements Cataract disease causing opacity in eye lens Chorea ceaseless rapid complex body movements that look well coordinated and purposeful but are, in fact, involuntary Chorioretinal dystrophy degeneration of choroideal and retinal layers that line the back of the eye Choroidea vascular layer underlying retina that lines the back of the eye Congenital malformation a physical defect in a newborn not defined to be either genetic or nongenetic by origin Corpus callosum the area of the brain which connects two large brain halves Craniofacial related to skull and face Cyclic neutropenia cyclic low number of neutrophils varying in severity week to week, month to month, and possibly follows biorhythms Dysmorphic feature a body characteristic that is abnormally formed Granulocyte a type of white blood cell filled with microscopic granules Granulocytopenia decrease in the number of granulocytes below normal values Heterogeneous disorder inherited disorder that has variable inheritance pattern or can be caused by several genes Hypogenitalism underdevelopment of the gonads Hypotonia decreased tone of skeletal muscles Intermittent neutropenia occasionally occurring low number of neutrophils Joint laxity hyperextensibility of the joint Kyphosis outward curvature of the spine, causing a humped back Leukopenia decrease of the number of white blood cells below normal values Lymphocytosis increase above normal values of lymphocytes Mandible the bone of the lower jaw Mental retardation limitations in mental functioning and in skills such as communicating, taking care of oneself, and social skills Mental deficiency synonym for mental retardation Microcephaly head circumference that is more than 2 standard deviations below the normal mean for age, sex, race, and gestationMyopia nearsightedness, the ability to see close objects more clearly than distant objects Neutrophil a subtype of white blood cell (specifically a form of granulocyte) filled with neutrally staining granules Neutropenia decrease of the number of neutrophils below normal values Nystagmus rapid rhythmic repetitious involuntary eye movements Phenotype the appearance of an individual, which results from the interaction of the person's genetic makeup and his or her environment Pigmentary retinopathy disease that causes accumulation of the pigment granules in retina Philtrum the area from below the nose to the upper lip Polydactyli increased number of digits The full-length 14,093 bp COH1 transcript was identified and assembled by in silico-based methods, and was verified by reverse transcriptase PCR (RT-PCR).The COH1 gene is composed of at least 62 exons over ~864 kb of genomic DNA.Several alternatively spliced forms of COH1 were observed.The 14,093 bp transcript is predicted to encode a 4,022 amino acid protein based on modelling with predicted transmembrane and other domains.Protein alignment against a domain family database indicated amino acid similarity with the S. cerevisiae Vps13 protein.This predicts that the COH1 protein has a function in the control of protein sorting.The results presented in this thesis allow molecular confirmation of the clinical diagnosis of Cohen syndrome and confirm the previously established diagnostic criteria.Moreover, the results show that Cohen and " Cohen-like" syndromes are clinically and genetically distinct disorders.This work is the basis for further characterization of the COH1 protein and the molecular pathogenesis of Cohen syndrome.
Source: Työväentutkimus Vuosikirja
Author: Juha Kolehmainen
Language: English
Topic: Genomics and Rare Diseases
Subfield: Genetics
Domain: Life Sciences
Open Access status: green
OpenAlex ID: W808763477