Genomic Imprinting in Turner Syndrome: Effects on Response to Growth Hormone and on Risk of Sensorineural Hearing Loss
| Autor: | Cheri Deal, Charmian A. Quigley, Greg Anglin, Catherine E. Hamelin |
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| Rok vydání: | 2006 |
| Předmět: |
Parents
medicine.medical_specialty Genotype Genetic Linkage Hearing Loss Sensorineural Endocrinology Diabetes and Metabolism Clinical Biochemistry Turner Syndrome Biology Biochemistry Genomic Imprinting Endocrinology Internal medicine Turner syndrome medicine Humans Genetic Predisposition to Disease X chromosome X-linked recessive inheritance Chromosomes Human X medicine.diagnostic_test Human Growth Hormone Biochemistry (medical) Bone age medicine.disease Body Height Recombinant Proteins Confidence interval Karyotyping Female Sensorineural hearing loss Pure tone audiometry Genomic imprinting Microsatellite Repeats |
| Zdroj: | The Journal of Clinical Endocrinology & Metabolism. 91:3002-3010 |
| ISSN: | 1945-7197 0021-972X |
| DOI: | 10.1210/jc.2006-0490 |
| Popis: | Evidence exists for X-linked parent-of-origin effects in Turner syndrome, because phenotypic and cognitive profiles differ between 45,X(maternal) and 45,X(paternal) individuals.We evaluated the parent-of-origin effect of the intact X chromosome on spontaneous growth, GH-stimulated height gain, and frequency of sensorineural hearing loss in 54 subjects with Turner syndrome recruited from a Canadian randomized, controlled trial of GH supplementation to adult height.Microsatellite analyses revealed that 72% of nonmosaic 45,X subjects retained an X(maternal), whereas 86% of nonmosaic 46,X,i(Xq) subjects carried an intact X(paternal). No significant differences were noted between X(maternal) and X(paternal) subjects for parents' heights, birth weight and length, and height, age, or bone age at study entry. In all subjects, and in those with X(maternal), baseline height sd score correlated with midparental height (all: r = 0.511, P0.001; X(maternal): r = 0.535, P = 0.001) and with mother's height (all: r = 0.510, P0.001; X(maternal): r = 0.574, P0.001) but only weakly with father's height (all: r = 0.334, P = 0.015; X(maternal): r = 0.292, P = 0.094). Using a linear model including age and height at GH initiation, subjects with X(maternal) had a greater mean height gain than those with X(paternal) (sd score difference and 95% confidence interval for all karyotypes was +0.43 and 0.04-0.82, P = 0.030, and for 45,X was +0.64 and 0.06-1.21, P = 0.031); X-linked imprinting explained 36-53% of the GH response. After pure tone audiometry testing, X(maternal) subjects were also less likely (P = 0.040) to have sensorineural hearing loss than X(paternal) subjects.This study provides evidence of an X-linked imprinting effect on GH response and on sensorineural hearing loss in Turner syndrome and should fuel the search for candidate genes. |
| Databáze: | OpenAIRE |
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