Back to Search
Start Over
FSHD type 2 and Bosma arhinia microphthalmia syndrome: Two faces of the same mutation.
- Source :
-
Neurology [Neurology] 2018 Aug 07; Vol. 91 (6), pp. e562-e570. Date of Electronic Publication: 2018 Jul 06. - Publication Year :
- 2018
-
Abstract
- Objective: To determine whether congenital arhinia/Bosma arhinia microphthalmia syndrome (BAMS) and facioscapulohumeral muscular dystrophy type 2 (FSHD2), 2 seemingly unrelated disorders both caused by heterozygous pathogenic missense variants in the SMCHD1 gene, might represent different ends of a broad single phenotypic spectrum associated with SMCHD1 dysfunction.<br />Methods: We examined and/or interviewed 14 patients with FSHD2 and 4 unaffected family members with N-terminal SMCHD1 pathogenic missense variants to identify BAMS subphenotypes.<br />Results: None of the patients with FSHD2 or family members demonstrated any congenital defects or dysmorphic features commonly found in patients with BAMS. One patient became anosmic after nasal surgery and one patient was hyposmic; one man was infertile (unknown cause) but reported normal pubertal development.<br />Conclusion: These data suggest that arhinia/BAMS and FSHD2 do not represent one phenotypic spectrum and that SMCHD1 pathogenic variants by themselves are insufficient to cause either of the 2 disorders. More likely, both arhinia/BAMS and FSHD2 are caused by complex oligogenic or multifactorial mechanisms that only partially overlap at the level of SMCHD1.<br /> (© 2018 American Academy of Neurology.)
- Subjects :
- Adolescent
Aged
Aged, 80 and over
Base Sequence
Female
Humans
Male
Middle Aged
Pedigree
Young Adult
Choanal Atresia diagnosis
Choanal Atresia genetics
Chromosomal Proteins, Non-Histone genetics
Microphthalmos diagnosis
Microphthalmos genetics
Muscular Dystrophy, Facioscapulohumeral diagnosis
Muscular Dystrophy, Facioscapulohumeral genetics
Mutation, Missense genetics
Nose abnormalities
Subjects
Details
- Language :
- English
- ISSN :
- 1526-632X
- Volume :
- 91
- Issue :
- 6
- Database :
- MEDLINE
- Journal :
- Neurology
- Publication Type :
- Academic Journal
- Accession number :
- 29980640
- Full Text :
- https://doi.org/10.1212/WNL.0000000000005958