Baraitser-Winter cerebrofrontofacial syndrome: Report of two adult siblings.
Abnormalities, Multiple
/ diagnosis
Actins
/ genetics
Adult
Coloboma
/ diagnosis
Craniofacial Abnormalities
/ diagnosis
Epilepsy
/ diagnosis
Facies
Female
Germ-Line Mutation
/ genetics
Humans
Intellectual Disability
/ diagnosis
Lissencephaly
/ diagnosis
Male
Microcephaly
/ diagnosis
Middle Aged
Mosaicism
Mutation, Missense
/ genetics
Siblings
ACTB
ACTG1
Baraitser-Winter cerebrofrontofacial syndrome
syndromes in adults
Journal
American journal of medical genetics. Part A
ISSN: 1552-4833
Titre abrégé: Am J Med Genet A
Pays: United States
ID NLM: 101235741
Informations de publication
Date de publication:
08 2020
08 2020
Historique:
received:
21
02
2020
revised:
21
04
2020
accepted:
25
04
2020
pubmed:
9
6
2020
medline:
4
6
2021
entrez:
8
6
2020
Statut:
ppublish
Résumé
Baraitser-Winter cerebrofrontofacial syndrome (BWCS) is a rare, autosomal dominant condition that is characterized by intellectual disability, distinctive craniofacial features, structural brain abnormalities, seizures, microcephaly, hearing loss, and ocular colobomas. The first three cases were described in 1988 by Baraitser and Winter and included two siblings and an unrelated third patient. Subsequently, causative missense variants in the ACTB and ACTG1 genes were identified, with de novo occurrence in patients with the condition. Herein, we describe two adult siblings who were born to unaffected parents and who were diagnosed with BWCS in their fourth and sixth decade of life following exome sequencing performed for intellectual disability. We review the literature reports of adult patients with BWCS to document the clinical features and phenotypic variability that can occur later in life. This is the first molecularly confirmed report of germline mosaicism in BWCS and one of only a few reports to describe two BWCS patients belonging to the same family.
Identifiants
pubmed: 32506774
doi: 10.1002/ajmg.a.61637
doi:
Substances chimiques
ACTG1 protein, human
0
Actins
0
Types de publication
Journal Article
Langues
eng
Sous-ensembles de citation
IM
Pagination
1923-1932Informations de copyright
© 2020 Wiley Periodicals, Inc.
Références
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