<i>Heat shock protein 27</i> gene: Chromosomal and molecular location and relationship to Williams syndrome

Stock, A. Dean; Spallone, Patricia; Dennis, Thomas R.; Netski, Dale; Morris, Colleen A.; Mervis, Carolyn Β.; Hobart, Holly H.

doi:10.1002/ajmg.a.20055

Cited by 30 publications

(33 citation statements)

References 21 publications

(28 reference statements)

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“…Williams syndrome is caused by deletions at 7q11.23, typically ϳ 1.55 Mb long and affecting ϳ 28 genes. A small proportion of patients have larger deletions [Stock et al, 2003;Ferland et al, 2006;Marshall et al, 2008]. PH has been previously described in association with Williams syndrome in one patient [Ferland et al, 2006].…”

Section: Discussionmentioning

confidence: 85%

Periventricular Heterotopia in Common Microdeletion Syndromes

et al. 2010

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Periventricular heterotopia (PH) is a brain malformation characterised by heterotopic nodules of neurons lining the walls of the cerebral ventricles. Mutations in FLNA account for 20–24% of instances but a majority have no identifiable genetic aetiology. Often the co-occurrence of PH with a chromosomal anomaly is used to infer a new locus for a Mendelian form of PH. This study reports four PH patients with three different microdeletion syndromes, each characterised by high-resolution genomic microarray. In three patients the deletions at 1p36 and 22q11 are conventional in size, whilst a fourth child had a deletion at 7q11.23 that was larger in extent than is typically seen in Williams syndrome. Although some instances of PH associated with chromosomal deletions could be attributed to the unmasking of a recessive allele or be indicative of more prevalent subclinical migrational anomalies, the rarity of PH in these three microdeletion syndromes and the description of other non-recurrent chromosomal defects do suggest that PH may be a manifestation of multiple different forms of chromosomal imbalance. In many, but possibly not all, instances the co-occurrence of PH with a chromosomal deletion is not necessarily indicative of uncharacterised underlying monogenic loci for this particular neuronal migrational anomaly.

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Section: Discussionmentioning

confidence: 85%

Periventricular Heterotopia in Common Microdeletion Syndromes

et al. 2010

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“…Although most individuals with 22q11DS have a similar "common 3 Mb deletion", a minority have other overlapping and non-overlapping 22q11.2 deletions (Amati et al 1999;Saitta et al 2004). In other microdeletion syndromes such as Williams syndrome, some aspects of the phenotype appear related to the length of the deletion (Stock et al 2003). In contrast, most studies of 22q11DS have found no evidence for such an association (Carlson et al 1997;Kurahashi et al 1997;Lindsay et al 1995;Saitta et al 2004).…”

Section: Introductionmentioning

confidence: 99%

Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome

et al. 2006

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22q11 Deletion syndrome (22q11DS) is a common microdeletion syndrome with variable expression, including congenital and later onset conditions such as schizophrenia. Most studies indicate that expression does not appear to be related to length of the deletion but there is limited information on the endpoints of even the common deletion breakpoint regions in adults. We used a real-time quantitative PCR (qPCR) approach to fine map 22q11.2 deletions in 44 adults with 22q11DS, 22 with schizophrenia (SZ; 12 M, 10 F; mean age 35.7 SD 8.0 years) and 22 with no history of psychosis (NP; 8 M, 14 F; mean age 27.1 SD 8.6 years). QPCR data were consistent with clinical FISH results using the TUPLE1 or N25 probes. Two subjects (one SZ, one NP) negative for clinical FISH had atypical 22q11.2 deletions confirmed by FISH using the RP11-138C22 probe. Most (n = 34; 18 SZ, 16 NP) subjects shared a common 3 Mb hemizygous 22q11.2 deletion. However, eight subjects showed breakpoint variability: a more telomeric proximal breakpoint (n = 2), or more centromeric (n = 3) or more telomeric distal breakpoint (n = 3). One NP subject had a proximal nested 1.4 Mb deletion. COMT and TBX1 were deleted in all 44 subjects, and PRODH in 40 subjects (19 SZ, 21 NP). The results delineate proximal and distal breakpoint variants in 22q11DS. Neither deletion extent nor PRODH haploinsufficiency appeared to explain the clinical expression of schizophrenia in the present study. Further studies are needed to elucidate the molecular basis of schizophrenia and clinical heterogeneity in 22q11DS.

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“…Az átlagos deletio nagysága 1,55 Mb (95%-ban), amely 26-28 gén elvesztésével jár [3]. Nagyobb mértékű génvesztés, kö-rülbelül 2-4 Mb deletio már súlyos fenotípus-manifesztációhoz vezet, és igen alacsony kognitív funkciót eredményez [4]. Három gén a WBSCR-régióban -ELN (elasztin), GTF1I (general transcription factor 1), GTF2IRD1 (general transcription factor II-I repeat domain-containing protein 1) -különösen fontos szerepet játszik a WS fenotípusában [5,6].…”

Section: Genetikai Jellegzetességekunclassified

Williams–Beuren-szindróma (Williams-szindróma)

et al. 2017

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A Williams-Beuren-szindróma minden etnikumban és nemben azonos gyakorisággal előforduló veleszületett genetikai betegség. Felismerése a mentális retardáció okának tisztázásán kívül azért is fontos, mert cardiovascularis, endokrinológiai, pszichiátriai, urológiai és egyéb betegségek bármely életkorban történő megjelenését okozhatja. A közle-mény egy középkorú nő esetét mutatja be, akit gasztroenterológiai kórkép miatt hospitalizáltak. Klinikai észlelése során a típusos megjelenés, mentális retardáció, viselkedésmintázata alapján felmerült a Williams-szindróma gyanúja, amelyet később igazolni sikerült. Tudomásunk szerint ez a nőbeteg most Magyarországon a legidősebb, igazolt Williams-szindrómával élő páciens. Orv Hetil. 2017; 158(47): 1883-1888. Kulcsszavak: Williams-Beuren-szindróma, mentális retardáció, genetikai vizsgálat Williams-Beuren syndrome (Williams syndrome) Case reportWilliams syndrome is a rare genetic disorder, that occurs equally in all ethnic groups and both sexes. The diagnosis might be missed during childhood in mild cases. However, establishing the diagnosis is important, not only to find the cause of intellectual disability but to look for cardiovascular, endocrine, psychiatry, urology and other conditions, which can occur at any age in the patients' lifetime. This case report presents the story of 47-year-old woman, who was admitted with haematemesis. During her stay on the ward, in the light of the distinctive facial features, mental retardation, and social behaviour patterns, the possibility of Williams syndrome emerged. Later, the diagnosis was confirmed by genetic analysis. This female is the oldest living patient with Williams syndrome in Hungary. EsetismertetésEgy 47 éves nőbeteg került felvételre a Semmelweis Egyetem, Általános Orvostudományi Kar, II. Belgyó-gyászati Klinika Endokrinológiai Osztályára vérhányás iránydiagnózissal. A felső emésztőrendszer endoszkópos vizsgálata refluxbetegséget és gyomoreróziókat igazolt, tüneteit savgátló és bevonószer alkalmazásával kezelték. Osztályos észlelése során feltűnt nagyfokú dysmorphiás

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Heat shock protein 27 gene: Chromosomal and molecular location and relationship to Williams syndrome

Cited by 30 publications

References 21 publications

Periventricular Heterotopia in Common Microdeletion Syndromes

Periventricular Heterotopia in Common Microdeletion Syndromes

Molecular characterization of deletion breakpoints in adults with 22q11 deletion syndrome

Williams–Beuren-szindróma (Williams-szindróma)

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