Identification and Characterization of an Xq26–q27 Duplication in a Family with Spina Bifida and Panhypopituitarism Suggests the Involvement of Two Distinct Genes

Hol, F.A.; Schepens, Marga; Beersum, Sylvia E. C. van; Redolfi, Elena; Affer, Maurizio; Vezzoni, Paolo; Hamel, B.C.J.; Karnes, Pamela S.; Mariman, E.C.M.; Zucchi, Ileana

doi:10.1006/geno.2000.6327

Cited by 59 publications

(73 citation statements)

References 26 publications

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“…[19][20][21][22][23][24][25][26][27][28][29][30][31][32][33][34] Yet, interstitial duplication encompassing the Xq27.3-Xq28 region has been reported in only three patients. 35,36 The probands were males and duplication was detected using routine cytogenetic analysis.…”

Section: Discussionmentioning

confidence: 99%

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

et al. 2009

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Section: Discussionmentioning

confidence: 99%

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

et al. 2009

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“…In humans, tandem duplications involving chromosome Xq26-27 have been identified in several pedigrees with mental retardation and hypopituitarism (36)(37)(38)(39). Using array comparative genomic hybridization, Solomon et al (39) defined a critical duplication region of 3.9 Mb between Xq26.1 and Xq27.3 containing 18 annotated transcripts including SOX3.…”

Section: Sox3mentioning

confidence: 99%

Hypothalamic and pituitary development: novel insights into the aetiology

Kelberman¹,

Dattani²

2007

eur j endocrinol

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The anterior pituitary gland is a central regulator of growth, reproduction and homeostasis, and is the end-product of a carefully orchestrated pattern of expression of signalling molecules and transcription factors leading to the development of this complex organ secreting six hormones from five different cell types. Naturally occurring and transgenic murine models have demonstrated a role for many of these molecules in the aetiology of combined pituitary hormone deficiency (CPHD). These include the transcription factors HESX1, PROP1, POU1F1, LHX3, LHX4, TBX19, SOX2 and SOX3. The expression pattern of these transcription factors dictates the phenotype that results when the gene encoding the relevant transcription factor is mutated. The highly variable phenotype may consist of isolated hypopituitarism, or more complex disorders such as septo-optic dysplasia and holoprosencephaly. Since mutations in any one transcription factor are uncommon, and since the overall incidence of mutations in known transcription factors is low in patients with CPHD, it is clear that many genes remain to be identified, and the characterization of these will further elucidate the pathogenesis of these complex conditions and also shed light on normal pituitary development.European Journal of Endocrinology 157 S3-S14

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“…Mental, psychomotor and growth retardation as well as craniofacial anomalies, hypotonia, hypoplastic genitalia, spina bifida and feeding difficulties are significant issues in individuals carrying Xq26-q27 duplications. 10,[12][13][14][15][16] Cryptorchidism is an additional clinical feature present in patients with larger duplications that affect Xq28 region (Table 1; Figure 3), which suggests that the gene responsible for this pathology might be located at the Xq28. Given the relatively small size of the duplication we present here, it could help to identify the genes responsible for the phenotype associated with distal Xq duplications.…”

Section: Discussionmentioning

confidence: 99%

“…The gene SOX3 that maps at Xq27.1 has been pointed out as a candidate gene for X-linked hypopituitarism in patients with duplications that include Xq27. [12][13][14]35,36 Nevertheless, there Figure 3 Comparison of patients with reported duplications involving the Xq26 region. Cytogenetic bands are shown for Xq26.2 to Xqter, and the location of the specific genes discussed in the text is also shown, according to the hg17 assembly of the UCSC (http://genome.ucsc.edu/cgi-bin/hgGateway).…”

Section: Discussionmentioning

confidence: 99%

“…The prevalence of Xq duplications is still unknown, and only few have been reported. [6][7][8][9][10][11][12][13][14][15][16] To date, cryptic duplications encompassing MECP2 gene seem to be the most frequent microduplication syndrome responsible for cognitive impairment in patients with Xq distal duplications. Approximately 1% of unexplained XLMR may be caused by MECP2 duplications.…”

Section: Introductionmentioning

confidence: 99%

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Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization

et al. 2010

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Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, hypopituitarism and a wide range of physical findings. We identified an inherited Xq26.2-Xq26.3 duplication in two brothers with severe mental retardation, hypotonia, growth delay, craniofacial disproportion and dental malocclusion. Chromosome analysis was normal and multiplex ligation-dependent probe amplification analysis detected duplication on Xq26. Further characterization by array comparative genomic hybridization and quantitative PCR helped to determine proximal and distal duplication breakpoints giving a size of approximately 2.8 Mb. The duplication encompasses 24 known genes, including the X-linked mental retardation genes ARHGEF6, PHF6, HPRT1 and SLC9A6. Clinical and molecular characterization of Xq duplications will shed more light into the phenotypic implication of functional disomy of X-chromosome genes.

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Identification and Characterization of an Xq26–q27 Duplication in a Family with Spina Bifida and Panhypopituitarism Suggests the Involvement of Two Distinct Genes

Cited by 59 publications

References 26 publications

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

Familial interstitial Xq27.3q28 duplication encompassing the FMR1 gene but not the MECP2 gene causes a new syndromic mental retardation condition

Hypothalamic and pituitary development: novel insights into the aetiology

Xq26.2-q26.3 microduplication in two brothers with intellectual disabilities: clinical and molecular characterization

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