X‐linked intellectual disability update 2017

Neri, Giovanni; Schwartz, Charles E.; Lubs, Herbert A.; Stevenson, Roger E.

doi:10.1002/ajmg.a.38710

Cited by 99 publications

(103 citation statements)

References 104 publications

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“…One hundred forty‐four XLID‐associated genes were identified using published data and the most recent XLID update . For each gene, clinical presentation, gene expression in blood, phenotype of carrier females, results of XI studies, functional pathway, and if the gene escapes XI were noted.…”

Section: Methodsmentioning

confidence: 99%

“…One hundred forty-four XLID-associated genes were identified using published data and the most recent XLID update. 18 For each gene, clinical presentation, gene expression in blood, phenotype of carrier females, results of XI studies, functional pathway, and if the gene escapes XI were noted. Gene expression in blood was determined using UniGene (https://www.ncbi.nlm.nih.gov/unigene), and gene escape from XI was determined using published data.…”

Section: Methodsmentioning

confidence: 99%

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X‐linked intellectual disability: Phenotypic expression in carrier females

et al. 2019

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To better understand the landscape of female phenotypic expression in X‐linked intellectual disability (XLID), we surveyed the literature for female carriers of XLID gene alterations (n = 1098) and combined this with experience evaluating XLID kindreds at the Greenwood Genetic Center (n = 341) and at the University of Adelaide (n = 157). One‐hundred forty‐four XLID genes were grouped into nine categories based on the level of female phenotypic expression, ranging from no expression to female only expression. For each gene, the clinical presentation, gene expression in blood, X‐inactivation (XI) pattern, biological pathway involved, and whether the gene escapes XI were noted. Among the XLID conditions, 88 (61.1%) exhibited female cognitive phenotypic expression only, while 56 (38.9%) had no female phenotypic expression (n = 45), phenotype expression with normal cognition in females (n = 8), or unknown status for female phenotypic expression (n = 3). In twenty‐four (16.6%) XLID genes, XI was consistently skewed in female carriers, in 54 (37.5%) XI showed variable skewing, and in 33 (22.9%) XI was consistently random. The XI pattern was unknown in 33 (22.9%) XLID conditions. Therefore, there is evidence of a female carrier phenotype in the majority of XLID conditions although how exactly XI patterns influence the female phenotype in XLID conditions remains unclear.

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Section: Methodsmentioning

confidence: 99%

Section: Methodsmentioning

confidence: 99%

X‐linked intellectual disability: Phenotypic expression in carrier females

et al. 2019

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“…The X chromosome contains more than 140 genes that have been associated with intellectual disability (X‐linked intellectual disabilities, XLID). Variants in only a few of them cause syndromes that are seen only—or predominantly—in females (Neri, Schwartz, Lubs, & Stevenson, ).…”

Section: Introductionmentioning

confidence: 99%

“…Variants in only a few of them cause syndromes that are seen only-or predominantly-in females (Neri, Schwartz, Lubs, & Stevenson, 2018).…”

Section: Introductionmentioning

confidence: 99%

Missense variants in the Arg206 residue of HNRNPH2: Further evidence of causality and expansion of the phenotype

Peron

Novara²,

Briola

et al. 2020

American J of Med Genetics Pt A

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Missense variants in HNRNPH2 cause Bain type syndromic X‐linked intellectual disability (XLID). To date, only six affected females and three affected males have been reported in the literature, and the phenotype has yet to be delineated in detail. Here, we report on a 35‐year‐old female with a novel de novo variant in HNRNPH2, providing further evidence that missense changes in the nuclear localization sequence cause Bain type XLID and that aminoacid 206 likely represents a mutational hotspot. We expand the phenotype of Bain type XLID to include breathing, sleep and movement disorders, cerebellar vermis hypoplasia, stereotypies, and hypersensitivity to noise. Our data indicate that the phenotype may be broader and more variable than initially reported, and suggest Rett syndrome as a possible differential diagnosis.

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“…Clark‐Baraitser syndrome thus joins three other disorders—Zollino, Wittwer, and Roifman syndromes—originally considered to be X‐linked and later found to have cytogenetic or molecular evidence for autosomal causation (Neri, Schwartz, Lubs, & Stevenson, ). The family reported by Atkin et al (), which included males and females with intellectual disability, has not been studied with molecular technologies.…”

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confidence: 97%