A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25–q26

Cilliers, Deirdre; Parveen, Rahat; Clayton, Peter; Cairns, S A; Clarke, Suzanne; Shalet, Stephen M; Black, Graeme C M; Newman, William G.; Clayton‐Smith, Jill

doi:10.1016/j.ejmg.2007.01.003

Cited by 3 publications

(1 citation statement)

References 25 publications

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“…In addition, SNF2L has been shown to regulate the engrailed genes, En-1 and En-2, both of which are important for mid/hind-brain development [ 27 , 28 ], the latter of which has been associated with autism in genetic linkage studies [ 29 - 31 ]. Given these criteria and the small sample size available for mutation analysis, other syndromes should be considered for screening, including the Shashi XLMR syndrome [ 32 , 33 ] and a family with syndromal XLMR and late-onset testicular failure (Cillier syndrome) [ 34 ] that both map to Xq26. In addition, there are 3 other syndromes (Wilson/MRXS12, Gustavson, and CMTX4/Cowchock-Fishbeck) and 8 MRX families (MRX 27, 35, 42, 62, 70, 71, 75, and 82) that map to this region that should also be considered in future screening endeavors [ 35 ].…”

Section: Resultsmentioning

confidence: 99%

Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26

Lazzaro

Todd²,

Lavigne³

et al. 2008

BMC Med Genet

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Background: Mutations in genes whose products modify chromatin structure have been recognized as a cause of X-linked mental retardation (XLMR). These genes encode proteins that regulate DNA methylation (MeCP2), modify histones (RSK2 and JARID1C), and remodel nucleosomes through ATP hydrolysis (ATRX). Thus, genes encoding other chromatin modifying proteins should also be considered as disease candidate genes. In this work, we have characterized the SNF2L gene, encoding an ATP-dependent chromatin remodeling protein of the ISWI family, and sequenced the gene in patients from 12 XLMR families linked to

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Section: Resultsmentioning

confidence: 99%

Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26

Lazzaro

Todd²,

Lavigne³

et al. 2008

BMC Med Genet

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USP26 gene variations in fertile and infertile men

et al. 2008

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Delineation of an inverted tandem Xq23-26.3 duplication in a female featuring extremely short stature and mild mental deficiency

Qin,

Zeng,

Wang

et al. 2023

Mol Cytogenet

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Background Partial duplications involving the long arm of the X chromosome are associated with mental retardation, short stature, microcephaly, and a wide range of physical findings. Female carriers usually have no clinical phenotype. Occasionally, they may also have heterogeneous features due to non-random inactivation of the X chromosome. Methods The peripheral blood sample was collected from the patient and subjected to a few genetic testing, including chromosomal karyotyping, Chromosomal microarray analysis (CMA), Optical genome mapping, short tandem repeat (STR) analysis for Determination of parental origin, and X chromosome inactivation (XCI) analysis. Results We have identified a de novo Xq23-Xq26.3 duplication in an adult female featuring extremely short stature and mild mental deficiency. Chromosome analysis detected a duplication on Xq23-q26.3 with a size of approximately 20 Mb. The duplication region has encompassed a number of genes, among which ARHGEF6, PHF6, HPRT1 and SLC9A6 are associated with X-linked mental retardation. Further analysis suggested that the duplication has derived from her father, was of the inversion duplication type and involved various degrees of skewed X chromosome inactivation. Conclusion Correlation with her phenotypes might indicate new mechanisms by which the X chromosome may lead to short stature and mental retardation. Our findings thereby may shed more light on the phenotypic implication of functional disomy of X-chromosome genes.

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A new X-linked mental retardation (XLMR) syndrome with late-onset primary testicular failure, short stature and microcephaly maps to Xq25–q26

Cited by 3 publications

References 25 publications

Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26

Characterization of novel isoforms and evaluation of SNF2L/SMARCA1 as a candidate gene for X-linked mental retardation in 12 families linked to Xq25-26

USP26 gene variations in fertile and infertile men

Delineation of an inverted tandem Xq23-26.3 duplication in a female featuring extremely short stature and mild mental deficiency

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