Williams Syndrome Medline Alert - June 1998

From the Medical Literature - June 1998


Record  1

A duplicated gene in the breakpoint regions of the 7q11.23 Williams-Beuren syndrome deletion encodes the initiator binding protein TFII-I and BAP-135, a phosphorylation target of BTK. Perez Jurado LA; Wang YK; Peoples R; Coloma A; Cruces J; Francke U Unidad de Genetica, Hospital Nino Jesus, Madrid, Spain. Stanford University Medical Center, Hum Mol Genet (ENGLAND) Mar 1998, 7 (3) p325-34, ISSN 0964-6906 Languages: ENGLISH Document type: JOURNAL ARTICLE

Williams-Beuren syndrome (WBS) is a neurodevelopmental disorder with multisystemic manifestations caused by heterozygosity for a partial deletion of chromosome band 7q11.23. The breakpoints cluster within regions located approximately 1 cM either side of the elastin (ELN) locus. We have characterized a duplicated region near the common deletion breakpoints, which includes a transcribed gene. The centromeric (C) and telomeric (T) copies are almost identical in the duplicated 3[prime] portions but diverge at their 5[prime]-ends. C-specific 4.3 kb mRNA and T-specific 5.4 kb mRNA are widely expressed in embryonic and adult tissues. The telomeric gene gives rise to several alternatively spliced forms and is deleted in all WBS individuals who have documented ELN deletions. Database searches revealed that this gene encodes BAP-135, a protein phosphorylated by Bruton's tyrosine kinase in B cells, as well as the multifunctional transcription factor TFII-I, hence the gene name GTF2I. The centromeric gene is not deleted in WBS and appears to be a partially truncated expressed pseudogene with no protein product (gene name GTF2IP1). Both loci map to different genomic clone contigs that also contain other deleted and non-deleted loci. A probe from the shared region recognizes a >3 Mb Not I junction fragment that is unique to individuals with the WBS deletion. Therefore, the duplicated region containing GTF2I and GTF2IP1 respectively is located close to the deletion breakpoints and may predispose to unequal meiotic recombination between chromosome 7 homologs and/or to intrachromosomal rearrangements. Hemizygosity for GTF2I may also contribute to the WBS phenotype.


Record 2

Mapping of the human cysteine-rich intestinal protein gene CRIP1 to the human chromosomal segment 7q11.23. Garcia-Barcelo M; Tsui SKW; Chim SS; Fung KP; Lee CY; Waye MM Basic Medical Sciences Building, The Chinese University of Hong Kong, Shatin, N.T., Hong Kong. Genomics (UNITED STATES) Feb 1 1998, 47 (3) p419-22, ISSN 0888-7543 Languages: ENGLISH Document type: JOURNAL ARTICLE

We report here on the mapping of a cDNA encoding for human cysteine-rich heart protein (HCRHP), a counterpart of the murine cysteine-rich intestinal protein CRIP. By somatic cell hybrid analysis and radiation hybrid mapping, we have located the gene CRIP1 (HGMW-approved symbol) on the subcentromeric region of the q arm of human chromosome 7, flanking a deletion associated with Williams syndrome. Copyright 1998 Academic Press.


Record 3

Carotid ultrasound examination in Williams syndrome. Sadler LS; Gingell R; Martin DJ Department of Pediatrics, State University of New York at Buffalo and the Children's Hospital, 14222, USA. J Pediatr (UNITED STATES) Feb 1998, 132 (2) p354-6, ISSN 0022-3476 Languages: ENGLISH Document type: JOURNAL ARTICLE

OBJECTIVE: To noninvasively measure arterial wall thickness in a group of patients with Williams syndrome (WS). METHODS: High-resolution, real-time B-mode ultrasonography was used to examine the carotid arteries of 20 patients with WS (ages 7 months to 24.9 years) and 25 control subjects (ages 2.5 years to 25.5 years). RESULTS: The mean combined intimal-medial wall thickness of the patients in the WS group was 0.86 mm +/- 0.08 mm compared with a mean of 0.54 mm +/- 0.05 mm in the control subjects (p < 0.0001). Within the WS group, arterial wall thickness did not vary significantly with gender, patient age, the presence or absence of stenotic cardiac disease, or the presence or absence of hypertension. CONCLUSIONS: The ultrasonographic finding of increased carotid arterial wall thickness across a wide range of patients with WS demonstrates the pervasive nature of the arteriopathy of this disorder. That increased arterial wall thickness was observed in all patients studied suggests that the arteriopathy of WS is related to haploinsufficiency for the elastin gene.


Record 4

Body composition, energy expenditure, and energy intake in patients with Williams syndrome [see comments] Kaplan AS; Stallings VA; Zemel BS; Green KA; Kaplan P Children's Hospital of Philadelphia, Department of Pediatrics, University of Pennsylvania School of Medicine, USA. J Pediatr (UNITED STATES) Feb 1998, 132 (2) p223-7, ISSN 0022-3476 Comment in J Pediatr 1998 Feb;132(2):195-6 Languages: ENGLISH Document type: JOURNAL ARTICLE

OBJECTIVE: To evaluate the body composition, resting energy expenditure (REE), and energy intake of adolescents and adults with Williams syndrome (WS) compared with matched healthy control subjects. METHODS: Body composition was determined by total body electrical conductivity and anthropometric measurements in six subjects with WS from the WS Clinic at Children's Hospital of Philadelphia and six healthy control subjects matched for age, height, and pubertal stage. REE was measured by open-circuit indirect calorimetry. Dietary intake was assessed by 3-day dietary records. RESULTS: Subjects with WS had similar anthropometric measurements to the control group except for a significantly lower percent body fat (17.1%+/-5.2% vs. 25.0%+/-6.7%). Dietary intake (measured in kilocalories per day) was similar between the two groups. REE was statistically higher by 155 kcal/day in the WS group after controlling for age, gender, and body composition. In addition, the WS group had a significantly higher percent predicted REE according to the World Health Organization equation, which adjusts for age, gender, and body weight. CONCLUSION: Adolescents and adults with WS have a similar dietary intake but a lower body fat than healthy control subjects. A higher REE may contribute to the thin body habitus and reduced total body fat stores of people with WS.


Record 5

The tangled relationship of energy expenditure, energy intake, and body weight [editorial; comment] Schoeller DA J Pediatr (UNITED STATES) Feb 1998, 132 (2) p195-6, ISSN 0022-3476 Comment on J Pediatr 1998 Feb;132(2):223-7; Comment on: J Pediatr 1998 Feb;132(2):228-33 Languages: ENGLISH Document type: COMMENT; EDITORIAL


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