Characterization of a germline mosaicism in families with Lowe syndrome, and identification of seven novel mutations in the OCRL1 gene

Article Abstract:

A germline mosaicism in families with Lowe syndrome has been characterized, and seven novel mutations in the OCRL1 (ital) gene identified. The oculocerebrorenal syndrome of Low (OCRL) is X-linked and characterized by major abnormalities of kidneys, eyes, and the nervous system and associated with mutations in the OCRL1 gene. This gene has been studied in eight unrelated OCRL patients. Two nonsense mutations and three frameshift mutations brought on premature termination of the protein. Two microsatellite markers were found for the OCRL1 locus and a germline mosaicism was seen in one family. Genetic counseling implications exist.

France, Spain, Lebanon, Abnormalities, Brain, Kidneys, Eye, Mosaicism, Kidney, X chromosome, Lowe's syndrome, Oculocerebrorenal syndrome

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Absence of linkage of phonological coding dyslexia to chromosome 6p23-p21.3 in a large family data set

Article Abstract:

The absence of linkage to chromosome 6p23-p21.3 for phonological coding dyslexia (PCD) in a large family data set is discussed with data from an investigation of 79 families with two or more siblings affected by phonological coding dyslexia. Use of the affected-pedigree-member (APM) method should be undertaken with caution since false-positive results seem to have been generated in other studies.

Canada, Statistical Data Included, Planning, Usage, Dyslexia, Genetic markers, Chromosome mapping, Genetic research, Experimental design, Research design, Linkage (Genetics), Articulation disorders

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