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First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations.
- Source :
-
American journal of medical genetics. Part A [Am J Med Genet A] 2018 Nov; Vol. 176 (11), pp. 2250-2258. Date of Electronic Publication: 2018 Oct 01. - Publication Year :
- 2018
-
Abstract
- Coffin-Siris syndrome (CSS; MIM 135900) is a multisystem congenital anomaly syndrome caused by mutations in the genes in the Brg-1 associated factors (BAF) complex. Classically, individuals with CSS have been described with hypo- or aplasia of the fifth digit nails or phalanges (hence the term "fifth digit syndrome"). Other physical features seen include growth restriction, coarse facial features, hypertrichosis or hirsutism, sparse scalp hair, dental anomalies, and other organ-system abnormalities. Varying degrees of developmental and intellectual delay are universal. To date, approximately 200 individuals have been described in the literature. With the advent of large-scale genetic testing such as whole-exome sequencing is becoming more available, more individuals are being found to have mutations in this pathway, and the phenotypic spectrum appears to be broadening. We report here a large cohort of 81 individuals with the diagnosis of CSS from the first parent-reported CSS/BAF complex registry in an effort to describe this variation among individuals, the natural history of the syndrome, and draw some gene-phenotype correlations. We propose that changes in the BAF complex may represent a spectrum of disorders, including both ARID1B-related nonsyndromic intellectual disability (ARID1B-ID) and CSS with classic physical features. In addition, we offer surveillance and management recommendations based on the medical issues encountered in this cohort to help guide physicians and patients' families.<br /> (© 2018 Wiley Periodicals, Inc.)
- Subjects :
- Abnormalities, Multiple genetics
Child, Preschool
Cohort Studies
Face pathology
Foot pathology
Genetic Association Studies
Hand pathology
Hand Deformities, Congenital genetics
Humans
Infant
Intellectual Disability genetics
Micrognathism genetics
Neck pathology
Abnormalities, Multiple pathology
Abnormalities, Multiple therapy
Face abnormalities
Hand Deformities, Congenital pathology
Hand Deformities, Congenital therapy
Intellectual Disability pathology
Intellectual Disability therapy
Micrognathism pathology
Micrognathism therapy
Neck abnormalities
Parents
Registries
Subjects
Details
- Language :
- English
- ISSN :
- 1552-4833
- Volume :
- 176
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- American journal of medical genetics. Part A
- Publication Type :
- Academic Journal
- Accession number :
- 30276971
- Full Text :
- https://doi.org/10.1002/ajmg.a.40471