Language Impairments in Individuals With Coffin-Siris Syndrome

Vasko, Ashley; Vergano, Samantha A. Schrier

doi:10.3389/fnins.2021.802583

Cited by 10 publications

(11 citation statements)

References 11 publications

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“…A large study of individuals with ARID1B changes by van der Sluijs et al (including what was characterized as ARID1B ‐Coffin Siris syndrome and ARID1B ‐related intellectual disability) noted that virtually all individuals had both motor (gross and fine) and speech delays, but specific neuropsychiatric assessments were not detailed. A study on language impairments in all Coffin‐Siris individuals from the same registry as in this manuscript (Vasko et al, 2022), which included 14 individuals with ARID2 changes, noted that 60% of individuals in that study had “severe” language impairment (first word after 25 months) and 13% had “moderate” language impairment (first word between 22 and 25 months). The majority of individuals with ARID2 changes in this study would be classified as having “mild” language impairment (first word between 19 and 21) months or normal language development (first word before 18 months) (8 individuals).…”

Section: Discussionmentioning

confidence: 74%

“…There (Vasko et al, 2022), which included 14 individuals with ARID2 changes, noted that 60% of individuals in that study had "severe" language impairment (first word after 25 months) and 13% had "moderate" language impairment (first word between 22 and 25 months). The majority of individuals with ARID2 changes in this study would be classified as having "mild" language impairment (first word between 19 and 21) months or normal language development (first word before 18 months) (8 individuals).…”

Section: Discussionmentioning

confidence: 94%

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ARID2, a milder cause of Coffin‐Siris Syndrome? Broadening the phenotype with 17 additional individuals

Schrier Vergano

2024

American J of Med Genetics Pt A

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Coffin‐Siris Syndrome (CSS, MIM 135900) is now a well‐described genetic condition caused by pathogenic variants in the Bromocriptine activating factor (BAF) complex, including ARID1B, ARID1A, ARID2, SMARCA4, SMARCE1, SMARCB1, SOX11, SMARCC2, DPF2, and more recently, BICRA. Individuals with CSS have a spectrum of various medical challenges, most often evident at birth, including feeding difficulties, hypotonia, organ‐system anomalies, and learning and developmental differences. The classic finding of fifth digit hypo‐ or aplasia is seen variably. ARID2, previously described, is one of the less frequently observed gene changes in CSS. Although individuals with ARID2 have been reported to have classic features of CSS including hypertrichosis, coarse facial features, short stature, and fifth digit anomalies, as with many of the other CSS genes, there appears to be a spectrum of phenotypes. We report here a cohort of 17 individuals with ARID2 variants from the Coffin‐Siris/BAF clinical registry and detail their medical challenges as well as developmental progress. Feeding difficulties, hypotonia, and short stature occur often, and hip dysplasia appears to occur more often than with other genes, however more severe medical challenges such as significant brain and cardiac malformations are rarer. Individuals appear to have mild to moderate intellectual impairment and may carry additional diagnoses such as ADHD. Further phenotypic description of this gene will aid clinicians caring for individuals with this rarer form of CSS.

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Section: Discussionmentioning

confidence: 74%

Section: Discussionmentioning

confidence: 94%

ARID2, a milder cause of Coffin‐Siris Syndrome? Broadening the phenotype with 17 additional individuals

Schrier Vergano

2024

American J of Med Genetics Pt A

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“…Literature deals with a total of 82 subjects with pathogenic variants in SOX11 , including complete gene deletions (14%), missense (74%) and loss‐of‐function (12%) variants 4,5,7–19 . Detailed clinical information and clinical pictures were available for 32/82 subjects, including our patient.…”

Section: Resultsmentioning

confidence: 99%

Pathogenic variants in SOX11 mimicking Pitt‐Hopkins syndrome phenotype

Pasquetti,

L'Erario,

Marangi

et al. 2023

Clinical Genetics

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Pitt‐Hopkins syndrome (PTHS) is a rare neurodevelopmental disorder characterised by severe intellectual disability (ID), distinctive facial features and autonomic nervous system dysfunction, caused by TCF4 haploinsufficiency. We clinically diagnosed with PTHS a 14 6/12‐year‐old female, who had a normal status of TCF4. The pathogenic c.667del (p.Asp223MetfsTer45) variant in SOX11 was identified through whole exome sequencing (WES). SOX11 variants were initially reported to cause Coffin‐Siris syndrome (CSS), characterised by growth restriction, moderate ID, coarse face, hypertrichosis and hypoplastic nails. However, recent studies have provided evidence that they give rise to a distinct neurodevelopmental disorder. To date, SOX11 variants are associated with a variable phenotype, which has been described to resemble CSS in some cases, but never PTHS. By reviewing both clinically and genetically 32 out of 82 subjects reported in the literature with SOX11 variants, for whom detailed information are provided, we found that 7/32 (22%) had a clinical presentation overlapping PTHS. Furthermore, we made a confirmation that overall SOX11 abnormalities feature a distinctive disorder characterised by severe ID, high incidence of microcephaly and low frequency of congenital malformations. Purpose of the present report is to enhance the role of clinical genetics in assessing the individual diagnosis after WES results.

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“…Recent genome wide-association studies led to the discovery of several neuron-specific BAF subunit gene mutations, mainly associated with neurodevelopmental disorders, among which the most well-known is CSS [ 17 ]. Up to the writing of this manuscript, identified BAF subunit mutations associated with CSS include ARID1A , ARID1B , ARID2 , SMARCA4 , SMARCB1 , SMARCE1 , SMARCC2 , DPF2 , SOX4 and SOX11 [ 1 , 6 , 18 ] ( Table 2 ). Most cases appear de novo and are inherited in an autosomal dominant manner [ 5 ].…”

Section: Discussionmentioning

confidence: 99%

“…However, the clinical spectrum of manifestations is very wide, with various degrees of cognitive delay and miscellaneous cardiac, gastrointestinal, genitourinary and central nervous system (CNS) malformations [ 5 ]. Around 300 subjects with known mutations were enrolled in the CSS/BAF complex registry in 2021 [ 1 , 6 ].…”

Section: Introductionmentioning

confidence: 99%

Pituitary hypoplasia and growth hormone deficiency in a patient with Coffin-Siris syndrome and severe short stature: case report and literature review

et al. 2022

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Coffin-Siris syndrome (CSS) is a rare genetic disorder caused by the haploinsufficiency of one of the various genes that are part of the Brahma/BRG1-associated factor (BAF) complex. The BAF complex is one of the chromatin remodeling complexes, involved in embryonic and neural development, and various gene mutations are associated with cognitive impairment. CSS has a highly variable genotype and phenotype expression, thus lacking standardized criteria for diagnosis. It is generally accepted to associate 5th digit/nail hypoplasia, intellectual disability (ID)/developmental delay and specific coarse facial features. CSS patients usually display miscellaneous cardiac, genitourinary and central nervous system (CNS) anomalies. Many patients also associate intrauterine growth restriction, failure to thrive and short stature, with several cases demonstrating growth hormone deficiency (GHD). We report the case of a 4-year-old girl with severe short stature (-3.2 standard deviations) due to pituitary hypoplasia and GHD that associated hypoplastic distal phalanx of the 5th digit in the hands and feet, severe ID, coarse facial features (bushy eyebrows, bulbous nose, flat nasal bridge, dental anomalies, thick lips, dental anomalies, bilateral epicanthal fold) and CNS anomalies (agenesis of the corpus callosum and bilateral hippocampal atrophy), thus meeting clinical criteria for the diagnosis of CSS. Karyotype was 46,XX. The patient was started on GH replacement therapy, with favorable outcomes. Current practical knowledge regarding CSS diagnosis and management from the endocrinological point of view is also reviewed.

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Language Impairments in Individuals With Coffin-Siris Syndrome

Cited by 10 publications

References 11 publications

ARID2, a milder cause of Coffin‐Siris Syndrome? Broadening the phenotype with 17 additional individuals

ARID2, a milder cause of Coffin‐Siris Syndrome? Broadening the phenotype with 17 additional individuals

Pathogenic variants in SOX11 mimicking Pitt‐Hopkins syndrome phenotype

Pituitary hypoplasia and growth hormone deficiency in a patient with Coffin-Siris syndrome and severe short stature: case report and literature review

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