Hemiarhinia caused by a missense variation in SMCHD1: A mild phenotype in the clinical spectrum of Bosma arhinia microphthalmia syndrome.
BAMS
arhinia
hemiarhinia
hypogonadotropic hypogonadism
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:
29 May 2024
29 May 2024
Historique:
revised:
02
04
2024
received:
04
11
2022
accepted:
11
04
2024
medline:
29
5
2024
pubmed:
29
5
2024
entrez:
29
5
2024
Statut:
aheadofprint
Résumé
Bosma arhinia microphthalmia syndrome (BAMS, OMIM #603457) is a rare autosomal dominant disorder caused by heterozygous variation in the SMCHD1 gene on chromosome 18p11. Clinically, it is characterized by microphthalmia, absence or hypoplasia of nose, choanal atresia, anosmia, palatal abnormalities, hypogonadotropic hypogonadism, and cryptorchidism. Here we report a Brazilian patient with a likely pathogenic variation in SMCHD1 gene (c.1418A>T; p.Glu473Val) presenting hemiarhinia associated with short stature and hypogonadotropic hypogonadism. Due to the clinical variability of BAMS, we considered that hemiarhinia, without microphthalmia, in the present case, can be considered a mild form of BAMS and could be considered for screening of SMCHD1 gene variation.
Identifiants
pubmed: 38808953
doi: 10.1002/ajmg.a.63640
doi:
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
e63640Informations de copyright
© 2024 Wiley Periodicals LLC.
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