Blog Archives

Familial Dyslexia in a Large Swedish Family: A Whole Genome Linkage Scan

There is a compelling body of evidence that developmental dyslexia runs in families and seems to be highly inheritable. Several investigations during the last two decades have shown possible locations of genes that might be involved in dyslexia, including regions of chromosomes 1, 2, 3, 6, 11, 13, 15 and 18. In addition, six candidate genes (KIAA0319, DYX1C1, DCDC2, ROBO1, MRPL19 and C2ORF3) seem to be related to dyslexia. The present study carried out a whole genome scan in a six-generation pedigree. In addition to literacy skills the assessment included cognitive skills and records concerning the history of reading and writing ability. Thirty-five percent were regarded as dyslexic in the family. A linkage analysis using both a quantitative and a qualitative approach has been performed. No evidence was obtained to support the hypothesis that the transmission of dyslexia in this pedigree is due to a highly penetrant major gene, and previous linkage findings were not replicated; however, power in this small study was not adequate to confirm linkage of genes with small to moderate effects. The results were discussed in relation to diagnostic procedures and sample characteristics.

from Behavior Genetics

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Preschool Speech, Language Skills, and Reading at 7, 9, and 10 Years: Etiology of the Relationship

Conclusion: Both genetic and environmental factors contribute to the relationship between early language skills and reading, whereas genetic factors play a dominant role in the relationship between early speech and reading.

from the Journal of Speech, Language, and Hearing Research

Gestational Diabetes Hinders Language Development in Offspring

from Pediatrics

CONCLUSION. Gestational diabetes hinders expressive language in offspring into middle childhood. Genes are strongly associated with the risk of delays in infants of diabetic mothers, and offspring of educated mothers are less affected.

An overview of the etiology of otosclerosis

from the European Archives of Oto-Rhino-Laryngology

Abstract Otosclerosis is the primary disease affecting the homeostasis of otic capsule and is among the most common causes of acquired hearing loss. Otosclerosis is considered as a multifactor disease, caused by both genetic and environmental factors. The aim of the present review is to summarize and analyze the bibliographic data, associated with the etiology of the disease. In some cases, the otosclerosis has an autosomal dominant mode of inheritance with incomplete penetrance. Genetic studies reveal the occurrence of at least nine chromosomal loci as candidate genes of the disease. The localized measles virus infection of the otic capsule has been postulated as a possible etiological theory. The role of hormonal factors, immune and bone-remodeling system in the etiopathogenesis of otosclerosis and the association of the disease with the disorders of the connective tissue are the issues of the present study. Despite the extensive research, many etiological factors and theories have been suggested and the process of development of the otosclerosis remains unclear.