SOFT syndrome in a patient from Chile.
POC1A
SOFT syndrome
bone age
patent ductus arteriosus
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:
03 2019
03 2019
Historique:
received:
23
09
2018
revised:
15
11
2018
accepted:
20
11
2018
pubmed:
21
12
2018
medline:
17
4
2020
entrez:
21
12
2018
Statut:
ppublish
Résumé
SOFT syndrome (MIM614813) is an extremely rare primordial dwarfism caused by biallelic mutations in the POC1A gene. It is characterized by prenatal short stature, onychodysplasia, facial dysmorphism, hypotrichosis, and variable skeletal abnormalities including hypoplastic pelvis and sacrum, small hands, and cone-shaped epiphyses, as well as delayed bone age. To the best of our knowledge, only eight POC1A mutations have been reported in humans to date. We report a 7-year-old Chilean girl with SOFT syndrome arising from a novel POC1A mutation c. 649C>T, p.Arg217Trp. Although her clinical features were largely compatible with SOFT syndrome, hand X-ray examinations at 3.5 and 6 years unexpectedly showed normal bone age. Automated bone age determination was performed using image analysis software, BoneXpert. This case highlights the importance of the accumulation of patients with POC1A mutations to further elucidate the detailed clinical features of SOFT syndrome.
Identifiants
pubmed: 30569574
doi: 10.1002/ajmg.a.61015
doi:
Substances chimiques
Cell Cycle Proteins
0
Cytoskeletal Proteins
0
POC1A protein, human
0
Types de publication
Case Reports
Journal Article
Research Support, Non-U.S. Gov't
Langues
eng
Sous-ensembles de citation
IM
Pagination
338-340Subventions
Organisme : AMED
ID : JP18dm0107090 JP18ek0109280 JP18ek0109301 JP18ek0109348 JP18kk020501
Pays : International
Organisme : JSPS KAKENHI
ID : JP16K06254JP17H01539
Pays : International
Informations de copyright
© 2018 Wiley Periodicals, Inc.