Fetal phenotypes in otopalatodigital spectrum disorders.
Clin Genet
; 89(3): 371-7, 2016 Mar.
Article
in En
| MEDLINE
| ID: mdl-26404489
ABSTRACT
Otopalatodigital spectrum disorders (OPDSD) include OPD syndromes types 1 and type 2 (OPD1, OPD2), Melnick-Needles syndrome (MNS), and frontometaphyseal dysplasia (FMD). These conditions are clinically characterized by variable skeletal dysplasia associated in males, with extra-skeletal features including brain malformations, cleft palate, cardiac anomalies, omphalocele and obstructive uropathy. Mutations in the FLNA gene have been reported in most FMD and OPD2 cases and in all instances of typical OPD1 and MNS. Here, we report a series of 10 fetuses and a neonatally deceased newborn displaying a multiple congenital anomalies syndrome suggestive of OPDSD and in whom we performed FLNA analysis. We found a global mutation rate of 44%. This series allows expanding the clinical and FLNA mutational spectrum in OPDSD. However, we emphasize difficulties to correctly discriminate OPDSD based on clinical criteria in fetuses due to the major overlap between these conditions. Molecular analyses may help pathologists to refine clinical diagnosis according to the type and the location of FLNA mutations. Discriminating the type of OPDSD is of importance in order to improve the genetic counseling to provide to families.
Key words
Full text:
1
Collection:
01-internacional
Database:
MEDLINE
Main subject:
Osteochondrodysplasias
/
Phenotype
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Hand Deformities, Congenital
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Craniofacial Abnormalities
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Fetus
/
Filamins
/
Mutation
Type of study:
Diagnostic_studies
Limits:
Female
/
Humans
/
Male
/
Newborn
Language:
En
Journal:
Clin Genet
Year:
2016
Document type:
Article
Affiliation country: