A New Dominant Gene Mental Retardation Syndrome

“…[1][2][3][4] Manifestations in female carriers are highly variable, but generally the signs and symptoms are much less severe than in males, with often normal or near-normal intelligence. Heterozygote detection is possible in most but not all carrier females.…”

Section: Introductionmentioning

confidence: 99%

Germline mosaicism in Coffin-Lowry syndrome

et al. 1998

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We have identified a Coffin-Lowry syndrome pedigree where the disorder is associated with a novel splice site mutation in the RSK2 gene, leading to in-phase skipping of exon 5. Western blot analysis, using an antibody directed against the C-terminus of RSK2, failed to reveal RSK2 in this patient, suggesting strongly that the resulting internally deleted protein is unstable. The mutation was present in the DNA of one affected son and one manifesting daughter but was absent in two asymptomatic daughters, who carry the at-risk haplotype, and in the mother's somatic cell (lymphocyte) DNA. The results are consistent with the mutation arising as a postzygotic event in the mother, who therefore is a germinal mosaic. The application of linked markers to identify the disease allele for conventional genetic counselling would have been misleading in this family. This observation again highlights the importance of precise identification of the disease-causing mutation.

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“…The Coffin-Lowry syndrome (CLS) is a rare but welldefined clinical entity marked by a characteristic facies, mental retardation and bone abnormalities [1][2][3]. Its expression is generally more pronounced in male patients [4,5].…”

Section: Introductionmentioning

confidence: 99%

“…Coffin et al [1] in 1966 and Lowry et al [2] in 1971 independently described patients with the syndrome. However, it was Tentamy et al [8], who, in 1975 recognized the similarity of the patients in the 2 reports and coined the name Coffin-Lowry syndrome.…”

Section: Introductionmentioning

confidence: 99%

Late-Onset Sensorineural Hearing Loss in Coffin-Lowry Syndrome

Rosanowski

Hoppe

Pröschel

et al. 1998

ORL

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The Coffin-Lowry syndrome (CLS) is a rare clinical entity where patients present with a characteristic facies, mental retardation and bone abnormalities. So far about 60 cases have been reported. Sensorineural hearing loss is not a characteristic symptom and a late-onset hearing loss has not been reported so far. We report on 4 brothers with CLS, aged 9–17 years, of whom 3 suffered from a severe sensorineural hearing loss with an onset during late childhood and adolescence after a normal hearing during early childhood. CT scans revealed no cochlear abnormalities. The boys were successfully equipped with hearing aids. It is suggested that in all CLS patients the hearing ability should be examined during early infancy and retested regularly in cases with normal hearing as these cases indicate that in CLS a late-onset hearing loss is possible during late childhood and adolescence.

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A New Dominant Gene Mental Retardation Syndrome

Cited by 110 publications

References 3 publications

Coffin-Lowry syndrome: clinical and molecular features

Coffin-Lowry syndrome: clinical and molecular features

Germline mosaicism in Coffin-Lowry syndrome

Late-Onset Sensorineural Hearing Loss in Coffin-Lowry Syndrome

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