Maternal SLE and brachytelephalangic chondrodysplasia punctata in a patient with unrelated de novo RAF1 and SIX2 variants.
Abnormalities, Multiple
/ diagnosis
Chondrodysplasia Punctata
/ diagnosis
Craniofacial Abnormalities
/ diagnosis
Face
/ abnormalities
Female
Genetic Predisposition to Disease
Hernia, Diaphragmatic
/ diagnosis
Homeodomain Proteins
/ genetics
Humans
Infant, Newborn
Nerve Tissue Proteins
/ genetics
Proto-Oncogene Proteins c-raf
/ genetics
RAF1
SIX2
brachytelephalangic chondrodysplasia punctata
frontonasal dysplasia
hearing loss
systemic lupus erythematosus
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:
07 2020
07 2020
Historique:
received:
09
07
2019
revised:
29
02
2020
accepted:
16
03
2020
pubmed:
9
6
2020
medline:
29
4
2021
entrez:
8
6
2020
Statut:
ppublish
Résumé
Our improved tools to identify the aetiologies in patients with multiple abnormalities resulted in the finding that some patients have more than a single genetic condition and that some of the diagnoses made in the past are acquired rather than inherited. However, limited knowledge has been accumulated regarding the phenotypic outcome of the interaction between different genetic conditions identified in the same patients. We report a newborn girl with brachytelephalangic chondrodysplasia punctata (BCDP) as well as frontonasal dysplasia, ptosis, bilateral hearing loss, vertebral anomalies, and pulmonary hypoplasia who was found, by whole exome sequencing, to have a de novo pathogenic variant in RAF1 (c.770C>T, [p.Ser257Leu]) and a likely pathogenic variant in SIX2 (c.760G>A [p.A254T]), as well as maternal systemic lupus erythematosus (SLE). This case shows that BCDP is most probably not a diagnostic entity and can be associated with various conditions associated with CDP including maternal SLE.
Identifiants
pubmed: 32506814
doi: 10.1002/ajmg.a.61621
doi:
Substances chimiques
Homeodomain Proteins
0
Nerve Tissue Proteins
0
SIX2 protein, human
0
Proto-Oncogene Proteins c-raf
EC 2.7.11.1
Raf1 protein, human
EC 2.7.11.1
Types de publication
Case Reports
Langues
eng
Sous-ensembles de citation
IM
Pagination
1807-1811Informations de copyright
© 2020 Wiley Periodicals, Inc.
Références
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