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Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria?
- Source :
- American journal of medical genetics. Part A. (11)
- Publication Year :
- 2009
-
Abstract
- Microphthalmic syndrome 9 (OMIM601186) is a genetically and phenotypically variable condition, comprising anophthalmia, pulmonary hypoplasia, diaphragmatic hernia, and cardiac malformations (PDAC syndrome). Reported cases have all been associated with fetal/neonatal death or developmental delay. Recessive stimulated by retinoic acid gene 6 homolog (STRA6) mutations have recently been identified as the cause of cases of PDAC in which distinct, "bushy" eyebrows have been observed. We describe a patient with clinical anophthalmia, bushy eyebrows, patent ductus arteriosus, and normal development at age 30 months, who is a compound heterozygote for two novel STRA6 missense mutations. This patient's phenotype is consistent with the multisystemic malformations of PDAC syndrome, but is somewhat milder. This is the first living patient with compound heterozygous STRA6 mutations, which may explain her milder phenotype. We conclude that STRA6 analysis should be considered in all patients with clinical anophthalmia. Genetic counseling should be cautious with respect to long-term developmental outcomes.
- Subjects :
- Adult
Heart Defects, Congenital
Male
congenital, hereditary, and neonatal diseases and abnormalities
medicine.medical_specialty
Pathology
DNA Mutational Analysis
Molecular Sequence Data
Compound heterozygosity
Microphthalmia
Pulmonary hypoplasia
Pregnancy
Internal medicine
Ductus arteriosus
Chromosome Segregation
Genetics
medicine
Missense mutation
Humans
Diaphragmatic hernia
Abnormalities, Multiple
Lung
Genetics (clinical)
Hernia, Diaphragmatic
Anophthalmia
Base Sequence
business.industry
Infant, Newborn
Anophthalmos
Brain
Infant
Membrane Proteins
Syndrome
medicine.disease
Hypoplasia
Pedigree
Endocrinology
medicine.anatomical_structure
Child, Preschool
Mutation
Female
Radiography, Thoracic
business
Tomography, X-Ray Computed
Subjects
Details
- ISSN :
- 15524833
- Issue :
- 11
- Database :
- OpenAIRE
- Journal :
- American journal of medical genetics. Part A
- Accession number :
- edsair.doi.dedup.....9b50153c189a9de92228658297397204