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Fragile X and X-linked Mental Retardation
Published in Merlin G. Butler, F. John Meaney, Genetics of Developmental Disabilities, 2019
Jacquemont Sebastien, Hagerman Randi, des Portes Vincent
In some cases syndromic XLMR genes were associated with nonsyndromic forms of XLMR. For instance, the gene RSK2 is usually mutated in the Coffin-Lowry syndrome, a condition with distinctive craniofacial and skeletal features (64). However, a missense mutation in exon 14 has been identified in a family with males presenting with nonspecific MR (65). Similarly, three brothers with nonsyndromic X-linked MR shared a mutation (P312L) in the FGD1 gene (66), which is involved in the Aarskog syndrome (67). Although the brothers have short stature and small feet, they lack distinct craniofacial, skeletal, or genital findings suggestive of Aarskog syndrome. Inversely, their cognitive impairment (moderate to severe MR) is more severe than the cognitive deficit usually observed in Aarskog subjects.
Musculoskeletal disorders and connective tissue disorders
Published in Steve Hannigan, Inherited Metabolic Diseases: A Guide to 100 Conditions, 2018
Coffin-Lowry syndrome is a rare genetic disorder characterised by developmental delay, skeletal, facial and digital abnormalities, reduced muscle tone (hypotonia) in infancy, and short stature. It is caused (at least in some cases) by a defect in the RSK2 gene that encodes a protein that acts as a growth factor regulator. This gene is located on the short arm of the X chromosome in band 22.
Recent advances in histone modification and histone modifying enzyme assays
Published in Expert Review of Molecular Diagnostics, 2019
Fei Ma, Su Jiang, Chun-yang Zhang
Notably, the histone modifications are not invariable but dynamically changed by a pair of histone modifying enzymes responsible for reversibly acting on one specific histone modification. For example, the acetylation is a most widely existed histone modification, which can be formed by histone acetyltransferases and reversibly removed by histone deacetylases (HDACs) [18]. The cooperation of these histone modifying enzymes establishes appropriate histone post-modification patterns, guaranteeing the accuracy of multiple normal cellular functions [19]. In contrast, the aberrant histone modifying enzyme activity will cause abnormal histone modification level, both of which are closely associated with a variety of human diseases such as Alzheimer’s disease [20], diabetes [21], Rubinstein–Taybi syndrome [22], Coffin–Lowry syndrome [23], acute myeloid leukemia [24], and cancers [25–28]. It has been clearly demonstrated that both histone-modifying enzymes and histone modifications are promising disease biomarkers for disease diagnosis and treatment. For example, global levels of histone modifications including H3K4me2, H3K18ac, and H3K9me2 are efficient biomarkers for predicting prognosis in different cancers [29]; Histone γH2AX can be used as clinical pharmacodynamic biomarker [30]; Histone acetyltransferase hMOF is frequently downregulated in medulloblastoma and constitutes a biomarker for clinical outcome in medulloblastoma [31]. Therefore, it is of great importance to develop effective methods for sensitive and selective detection of various histone modifications and histone modifying enzymes.
Gene networks associated with non-syndromic intellectual disability
Published in Journal of Neurogenetics, 2018
Soohyun Lee, Stephen Rudd, Jacob Gratten, Peter M. Visscher, Johannes B. Prins, Paul A. Dawson
From our curated list of 245 candidate NS-ID genes, we identified genes common to S-ID by searching PubMed and Medline on the basis of co-occurrence of gene names and the term ‘syndrome’, which identified: Angelman, Aarskog–Scott syndrome, Bardet–Biedl syndrome, Börjeson–Forssman–Lehmann syndrome, Cockayne syndrome, Coffin–Lowry syndrome, Cornelia de Lange syndrome, Cri Du Chat syndrome, DiGeorge syndrome, Down syndrome, Fragile X syndrome, Langer–Giedion syndrome, Laurence–Moon syndrome, Noonan syndrome, Pettigrew syndrome, Pitt–Hopkins syndrome, Prader–Willi syndrome, Rett syndrome, Rubinstein–Taybi syndrome, Tay–Sachs Disease, Williams syndrome, West syndrome and X-linked ID. Those genes reported to be associated with S-ID were confirmed from the full text of identified publications.