Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3

Solomon, Nicola M.; Ross, Shelley; Morgan, Thomas M.; Belsky, Joseph L.; Hol, F.A.; Karnes, Pamela S.; Hopwood, Nancy J.; Myers, Susan E.; Tan, Anmin; Warne, Garry L.; Forrest, Susan M.; Thomas, Paul Q.

doi:10.1136/jmg.2007.049049

Cited by 55 publications

(53 citation statements)

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“…Regarding spina bifida, accepting that there is a causative gene for this trait in the long arm of the X chromosome, some authors narrowed the critical region to Xq26.2 [16], which is not in agreement with our findings.…”

Section: Discussioncontrasting

confidence: 56%

“…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 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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Section: Discussioncontrasting

confidence: 56%

Section: Discussionmentioning

confidence: 99%

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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“…SOX3 was the first member of this family to be associated with X-linked hypopituitarism in mice and humans (Laumonnier et al 2002, Rizzoti et al 2004, Solomon et al 2004, Woods et al 2005). …”

Section: Introductionmentioning

confidence: 99%

The role of SOX proteins in normal pituitary development

Alatzoglou¹,

Kelberman²,

Dattani³

2008

Journal of Endocrinology

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Pituitary development is a complex process that depends on the co-ordinated spatial and temporal expression of transcription factors and signalling molecules that culminates in the formation of a complex organ that secretes six hormones from five different cell types. Given the fact that all distinct hormone producing cells arise from a common ectodermal primordium, the patterning, architecture and plasticity of the gland is impressive. Among the transcription factors involved in the early steps of pituitary organogenesis are SOX2 and SOX3, members of the SOX family that are emerging as key players in many developmental processes. Studies in vitro and in vivo in transgenic animal models have helped to elucidate their expression patterns and roles in the developing hypothalamo-pituitary region. It has been demonstrated that they may be involved in pituitary development either directly, through shaping of Rathke's pouch, or indirectly affecting signalling from the diencephalon. Their role has been further underlined by the pleiotropic effects of their mutations in humans that range from isolated hormone deficiencies to panhypopituitarism and developmental abnormalities affecting many organ systems. However, the exact mechanism of action of SOX proteins, their downstream targets and their interplay within the extensive network that regulates pituitary development is still the subject of a growing number of studies. The elucidation of their role is crucial for the understanding of a number of processes that range from developmental mechanisms to disease phenotypes and tumorigenesis.

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“…Duplication of the X chromosome can be de novo or inherited (Aughton et al, 1993). X chromosomal duplication in males is associated with multiple congenital anomalies and developmental delays (Solomon et al, 2004;Cheng et al, 2005). However, its manifestations in females are varied and complex.…”

Section: Introductionmentioning

confidence: 99%

Birth of a healthy child by a woman with inherited Xq duplications who had experienced stillbirths

Dong¹,

Chen²,

Yu³

et al. 2014

Genet. Mol. Res.

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ABSTRACT.A 23-year-old woman who had experienced repeated stillbirths, was found to carry an additional segment on the long arm of the X chromosome. Array comparative genomic hybridization (aCGH) confirmed the origin of the 2 duplications (about 17.11 Mb). Thus, her karyotype was 46, X, dup (X) (q13.2-q21.1), dup(X) (q21.32-q22.1). We demonstrate that aCGH is a useful complementary tool to cytogenetic analysis for accurately determining banding. To our knowledge, this is the first case with normal apparently phenotype who inherited 2 duplications on Xq. Notably, after 2 stillbirths, she bore a healthy, normal female infant via natural pregnancy. Thus, a carrier of this karyotype can birth a phenotypically normal child.

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Array comparative genomic hybridisation analysis of boys with X-linked hypopituitarism identifies a 3.9 Mb duplicated critical region at Xq27 containing SOX3

Cited by 55 publications

References 4 publications

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

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

The role of SOX proteins in normal pituitary development

Birth of a healthy child by a woman with inherited Xq duplications who had experienced stillbirths

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