Williams Syndrome Associated with Chronic Renal Failure and Various Endocrinological Abnormalities.

Ichinose, Mayuri; Tojo, Katsuyoshi; Nakamura, Koji; Matsuda, Hiroyuki; Tokudome, Goro; Ohta, Makoto; Sakai, Soichi; Sakai, Osamu

doi:10.2169/internalmedicine.35.482

Cited by 7 publications

(5 citation statements)

References 31 publications

(20 reference statements)

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“…There are published reports of renal dysfunction and even renal failure in the WS literature [Biesecker et al, 1987;Steiger et al, 1988;Ichinose et al, 1996;Davies et al, 1997]. None of the members of our research cohort had evidence of renal disease; likewise this was an exceptionally rare finding in our genetics clinic population of WS adults.…”

Section: Discussion Of Genitourinary Findingsmentioning

confidence: 61%

Multisystem study of 20 older adults with Williams syndrome

Cherniske

Carpenter

Klaiman

et al. 2004

American J of Med Genetics Pt A

220

237

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To address the natural history of Williams syndrome (WS), we performed multisystem assessments on 20 adults with WS over 30 years of age and documented a high frequency of problems in multiple organ systems. The most striking and consistent findings were: abnormal body habitus; mild-moderate high frequency sensorineural hearing loss; cardiovascular disease and hypertension; gastrointestinal symptoms including diverticular disease; diabetes and abnormal glucose tolerance on standard oral glucose tolerance testing; subclinical hypothyroidism; decreased bone mineral density on DEXA scanning; and a high frequency of psychiatric symptoms, most notably anxiety, often requiring multimodal therapy. Review of brain MRI scans did not demonstrate consistent pathology. The adults in our cohort were not living independently and the vast majority were not competitively employed. Our preliminary findings raise concern about the occurrence of mild accelerated aging, which may additionally complicate the long-term natural history of older adults with WS. We provide monitoring guidelines to assist in the comprehensive care of adults with WS.

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Section: Discussion Of Genitourinary Findingsmentioning

confidence: 61%

Multisystem study of 20 older adults with Williams syndrome

Cherniske

Carpenter

Klaiman

et al. 2004

American J of Med Genetics Pt A

220

237

View full text Add to dashboard Cite

show abstract

“…Indeed, the literature to date includes just a few case reports on HPA functioning in people with WS and co-occurring medical complications. For example, Ichinose et al (1996) presented the case of a man with WS with chronic renal failure. This patient had the typical decline in cortisol throughout the day and a normal cortisol increase in response to exogenous adrenocorticotrophic hormone (ACTH) administration, suggesting proper adrenocortical functioning.…”

Section: Discussionmentioning

confidence: 99%

Diurnal Cortisol Profile in Williams Syndrome in Novel and Familiar Settings

Lense

Tomarken²,

Dykens³

2013

American Journal on Intellectual and Developmental Disabilities

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Williams syndrome (WS) is a neurodevelopmental genetic disorder associated with high rates of anxiety and social issues. We examined diurnal cortisol, a biomarker of the stress response, in adults with WS in novel and familiar settings, and compared these profiles to typically developing (TD) adults. WS and TD participants had similar profiles in a familiar setting, while participants with WS had elevated cortisol late in the day in the novel setting when social demands were higher. The cortisol awakening response in WS was associated with parent-reported levels of somatic complaints and social difficulties. Results suggest that adults with WS have a typical diurnal cortisol profile that may be sensitive to social and activity transitions throughout the day.

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“…The human Williams syndrome is a complex developmental disorder involving defects of the cardiovascular, connective tissue and central nervous systems [2,10], resulting from heterozygous or hemizygous micro-deletion of a 1.6-Mb segment of human chromosome 7q11.23 [4]. In addition to these symptoms, defect of spermatogenesis has also been reported in a male patient with Williams syndrome [5]. The present findings indicate the possibility that the Fkbp6 gene is also responsible for the spermatogenic failure in the Williams syndrome.…”

Section: Discussionmentioning

confidence: 99%

“…Since a patient with this syndrome showed defect of spermatogenesis [5], a comparison of the rat and human corresponding regions is important for defining the relation between the rat and human diseases. We, therefore, performed fine mapping of the as locus by linkage analysis and compared the rat linkage map with mouse and human physical maps in the present study.…”

Section: Introductionmentioning

confidence: 99%

Fine Mapping of a Region of Rat Chromosome 12 Close to the Aspermia (as) Locus and Comparison with the Human Orthologous Regions

et al. 2004

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Abstract:The aspermia mutation of the rat exhibits male sterility caused by arrest of spermatogenesis, which is controlled by an autosomal single recessive gene (as). The as locus has been mapped on rat chromosome 12. We recently identified a causative mutation for the aspermia phenotype of the as homozygous rats in the gene encoding Fkbp6, a member of the immunophilins FK506 binding proteins. In this paper, we report the fine mapping of the as locus by linkage analysis combined with comparative mapping using rat, mouse, and human genomic sequences and expression analysis of genes located in the as region. We constructed a fine linkage map of the region of rat chromosome 12 close to the as locus by using 13 microsatellite markers and localized the as locus to a 1.0-cM interval. Comparison of the linkage map with physical maps of rat, mouse, and human refined the as critical region in a 2.2-Mb segment of the rat physical map between the D12Nas3 and D12Nas8 genes, which includes the Fkbp6 gene. A centromeric part of this segment corresponds to the region commonly deleted in Williams syndrome, a human complex developmental disorder, on human chromosome 7q11.23. The expression analysis of 23 genes located on the 2.2-Mb segments in various mouse tissues identified genes exclusively or strongly expressed in the testis.

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Williams Syndrome Associated with Chronic Renal Failure and Various Endocrinological Abnormalities.

Cited by 7 publications

References 31 publications

Multisystem study of 20 older adults with Williams syndrome

Multisystem study of 20 older adults with Williams syndrome

Diurnal Cortisol Profile in Williams Syndrome in Novel and Familiar Settings

Fine Mapping of a Region of Rat Chromosome 12 Close to the Aspermia (as) Locus and Comparison with the Human Orthologous Regions

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