Permanent URL to this publication: http://dx.doi.org/10.5167/uzh-31681
Segel, R; Levy-Lahad, E; Pasutto, F; Picard, E; Rauch, A; Alterescu, G; Schimmel, M S (2009). Pulmonary hypoplasia-diaphragmatic hernia-anophthalmia-cardiac defect (PDAC) syndrome due to STRA6 mutations--what are the minimal criteria? American Journal of Medical Genetics. Part A, 149A(11):2457-2463.
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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.
|Item Type:||Journal Article, refereed, original work|
|Communities & Collections:||04 Faculty of Medicine > Institute of Medical Genetics|
|DDC:||570 Life sciences; biology|
610 Medicine & health
|Date:||16 October 2009|
|Deposited On:||23 Feb 2010 07:54|
|Last Modified:||23 Nov 2012 15:26|
|WoS Citation Count:||10|
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