Premium
Okur‐Chung neurodevelopmental syndrome in a patient from Spain
Author(s) -
MartinezMonseny Antonio F.,
CasasAlba Dídac,
Arjona César,
Bolasell Mercè,
Casano Paula,
Muchart Jordi,
Ramos Federico,
Martorell Loreto,
Palau Francesc,
GarcíaAlix Alfredo,
Serrano Mercedes
Publication year - 2020
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.61405
Subject(s) - hypotonia , gene duplication , pediatrics , magnetic resonance imaging , medicine , intellectual disability , neurodevelopmental disorder , mutation , genetics , autism , biology , radiology , gene , psychiatry
Okur‐Chung neurodevelopmental syndrome (OCNS, MIM#617062) is a rare autosomal dominant syndrome related to CSNK2A1 mutations. It is characterized by intellectual disability, hypotonia, feeding and speech difficulties, dysmorphic features, and multisystem involvement. To date, less than 30 patients with OCNS have been described in detail in the literature, primarily in Asian populations. Here, we report a 5‐year‐old Spanish female with OCNS arising from a novel CSNK2A1 mutation c.149A>G, p.Tyr50Cys. Although her clinical features were compatible with OCNS syndrome, magnetic resonance imaging unexpectedly showed a duplication of the pituitary gland, a clinical finding not previously related to any known genetic condition. Other novel signs were an absence of the olfactory bulbs and multiple duplications of cervical vertebrae. We suggest that the midline abnormalities may be a significant part of this condition and lead to diagnostic suspicion. However, further descriptions are needed.