Pulmonary hypoplasia–diaphragmatic hernia–anophthalmia–cardiac defect (PDAC) syndrome due to STRA6 mutations—What are the minimal criteria?

Authors

  • Reeval Segel,

    Corresponding author
    1. Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel
    2. Department of Pediatrics, Shaare Zedek Medical Center, Jerusalem, Israel
    3. Hadassah - Hebrew University School of Medicine, Jerusalem, Israel
    • Medical Genetics Institute, Shaare Zedek Medical Center, P.O. Box 3235, Jerusalem 91031, Israel.
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  • Ephrat Levy-Lahad,

    1. Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel
    2. Hadassah - Hebrew University School of Medicine, Jerusalem, Israel
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  • Francesca Pasutto,

    1. Pediatric Respiratory Unit, Shaare Zedek Medical Center, Jerusalem, Israel
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  • Elie Picard,

    1. Department of Pediatrics, Shaare Zedek Medical Center, Jerusalem, Israel
    2. Hadassah - Hebrew University School of Medicine, Jerusalem, Israel
    3. Pediatric Respiratory Unit, Shaare Zedek Medical Center, Jerusalem, Israel
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  • Anita Rauch,

    1. Institute of Human Genetics, Friedrich-Alexander-University Erlangen-Nuremberg, Erlangen, Germany
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  • Gheona Alterescu,

    1. Medical Genetics Institute, Shaare Zedek Medical Center, Jerusalem, Israel
    2. Hadassah - Hebrew University School of Medicine, Jerusalem, Israel
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  • Michael S. Schimmel

    1. Hadassah - Hebrew University School of Medicine, Jerusalem, Israel
    2. Department of Neonatology, Shaare Zedek Medical Center, Jerusalem, Israel
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  • How to Cite this Article: Segel R, Levy-Lahad E, Pasutto F, Picard E, Rauch A, Alterescu G, Schimmel MS. 2009. Pulmonary hypoplasia–diaphragmatic hernia–anophthalmia–cardiac defect (PDAC) syndrome due to STRA6 mutations—What are the minimal criteria? Am J Med Genet Part A 149A:2457–2463.

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. © 2009 Wiley-Liss, Inc.

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