Childhood Autism in a Female with Coffin Siris Syndrome

Hersh, Joseph H.; Bloom, Allan S.; Weisskopf, Bernard

doi:10.1097/00004703-198212000-00016

Cited by 17 publications

(16 citation statements)

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“…Children averaged sitting at 12 months, walking at 30 months, speaking their first word at 24 months, and attaining skills involved with daily aspects of living around early school age. Autism also has been described [Hersh et al, 1982] although additional individuals with cognitive or developmental abnormalities may display autistic features that are components of their development changes. Although all the individuals reported to date appear to have developmental or cognitive deficits, this may represent a selection bias rather than an inherent feature, since those without any delays may not present to medical care, nor would CSS be considered.…”

Section: Discussion and Review Of Literaturementioning

confidence: 99%

The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases

Schrier

Bodurtha

Burton

et al. 2012

American J of Med Genetics Pt A

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Coffin-Siris syndrome (CSS) is a rare, clinically heterogeneous disorder often considered in the setting of cognitive/developmental delay and 5th finger/nail hypoplasia. Due to the clinical variability of facial and other features, this diagnosis is often difficult to confirm clinically and the existence of this disorder as a specific diagnosis has been at times an issue of debate. In an effort to further delineate the spectrum and key phenotypic features, we reviewed 80 previously reported cases to define features in patients that most closely correlated with a convincing diagnosis. There appear to be two subtypes of CSS, one which displays the “classic” coarse facial features previously described; another displays “variant” facial features which are less striking. Using these features, we defined an algorithm to rank the confidence of diagnosis and applied it to fifteen additional patients who had been previously characterized by chromosome microarray. This approach will also facilitate uniform categorization for whole-exome analysis.

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Section: Discussion and Review Of Literaturementioning

confidence: 99%

The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases

Schrier

Bodurtha

Burton

et al. 2012

American J of Med Genetics Pt A

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“…The majority of cases described in the literature are either sporadic or appear to have autosomal recessive inheritance, implicated by consanguinity [Hersch et al, 1982;Franceschini et al, 1986;Bonioli et al, 1995]. Autosomal dominant inheritance has also been described less commonly [Haspeslagh et al, 1984].…”

Section: Discussionmentioning

confidence: 99%

“…As this syndrome's etiology remains unknown, the diagnosis is based solely on clinical findings. Both autosomal recessive and autosomal dominant inheritance have been reported [Coffin and Siris, 1970;Carey and Hall, 1978;Hersch et al, 1982;Haspeslagh et al, 1984;Franceschini et al, 1986;Richieri-Costa et al, 1986;Rabe et al, 1991;Bonioli et al, 1995].…”

Section: Introductionmentioning

confidence: 99%

Autosomal dominant syndrome resembling Coffin–Siris syndrome

Flynn

Milunsky

2006

American J of Med Genetics Pt A

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Coffin-Siris syndrome is a multiple congenital anomaly/mental retardation syndrome with phenotypic variability [OMIM 135900]. The diagnosis is based solely on clinical findings, as there is currently no molecular, biochemical, or cytogenetic analysis available to confirm a diagnosis. Although typically described as an autosomal recessive disorder, autosomal dominant inheritance has also been infrequently reported. We describe a mother and her two daughters who all have features that resemble Coffin-Siris syndrome. However, this is not a completely convincing diagnosis given that hypertelorism is not a feature of Coffin-Siris syndrome and the family is relatively mildly affected. Yet, this family provides further evidence of an autosomal dominant mode of inheritance for a likely variant of Coffin-Siris syndrome (at least in some families). In addition, Sibling 1 had premature thelarche. She is the second reported individual within the spectrum of Coffin-Siris syndrome to have premature thelarche, indicating that it may be a rare clinical feature.

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“…Recent human exome sequencing and genome-wide association studies implicated mutations in genes encoding the core ATPase subunit Brg1 and its associated proteins cause Coffin-Siris syndrome and Nicolaides-Baraitser syndrome [22, 26, 28]. Patients with these diseases have autistic symptoms such as intellectual disability and delayed speech [6, 10]. Some patients also develop the Dandy-Walker brain abnormality, which is hydrocephalus in the cerebellum region[11].…”

Section: Introductionmentioning

confidence: 99%

Camk2a-Cre-mediated conditional deletion of chromatin remodeler Brg1 causes perinatal hydrocephalus

Cao

2015

Neuroscience Letters

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Mammalian SWI/SNF-like BAF chromatin remodeling complexes are essential for many aspects of neural development. Mutations in the genes encoding the core subunit Brg1/SmarcA4or other complex components cause neurodevelopmental diseases and are associated with autism. Congenital hydrocephalus is a serious brain disorder often experienced by these patients. We report a role of Brg1 in the pathogenesis of hydrocephalus disorder. We discovered an unexpected early activity of mouse Camk2a-Cre transgene, which mediates Brg1 deletionin a subset of forebrain neurons beginning in the late embryonic stage. Brg1 deletion in these neurons led to severe congenital hydrocephalus with enlargement of the lateral ventricles and attenuation of the cerebral cortex. The Brg1-deficient mice had significantly smaller subcommissural organs and narrowerSylvian aqueducts than mice that express normal levels of Brg1. Effects were non-cell autonomous and may be responsible for the development of the congenital hydrocephalus phenotype. Our study provides evidence indicating that abnormalities in Brg1 function result in defects associated with neurodevelopmental disorders and autism.

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Childhood Autism in a Female with Coffin Siris Syndrome

Cited by 17 publications

References 0 publications

The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases

The Coffin–Siris syndrome: A proposed diagnostic approach and assessment of 15 overlapping cases

Autosomal dominant syndrome resembling Coffin–Siris syndrome

Camk2a-Cre-mediated conditional deletion of chromatin remodeler Brg1 causes perinatal hydrocephalus

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