Both a frameshift and a missense mutation of theSTRA6gene observed in an infant with the Matthew-Wood syndrome
| Autor: | Zuzanna Gaj, Samantha Sadowski, Ewa Czichos, Dorota Nowakowska, Jan Wilczyński, Nicolas Chassaing |
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| Rok vydání: | 2017 |
| Předmět: |
0301 basic medicine
Embryology medicine.medical_specialty Pathology Anophthalmia Heart malformation business.industry Health Toxicology and Mutagenesis Pulmonary Agenesis Toxicology medicine.disease Microphthalmia 3. Good health Frameshift mutation 03 medical and health sciences 030104 developmental biology Endocrinology Agenesis Internal medicine Pediatrics Perinatology and Child Health medicine Missense mutation business Matthew Wood syndrome Developmental Biology |
| Zdroj: | Birth Defects Research. 109:251-253 |
| ISSN: | 2472-1727 |
| DOI: | 10.1002/bdra.23465 |
| Popis: | Background The Matthew-Wood syndrome is associated with mutations of the STRA6 gene. It combines a pulmonary agenesis/hypoplasia; microphthalmia/anophthalmia; congenital cardiac, digestive, and urogenital malformations; and diaphragmatic defects. Case A 23-year-old nulliparous woman was referred to our center after a fetal ultrasound examination at 26 weeks of pregnancy revealed an abnormal head shape, a heart malformation, multiple cysts in both kidneys, and dilated ureters. A male baby (46, XY; 3600g; Apgar score 1) was delivered at 38 weeks of gestation and died 1 hr later due to respiratory failure. The diagnosis of Matthew-Wood syndrome was suspected given the association of bilateral anophthalmia, agenesis of the left lung, and heart and kidney defects. It was confirmed by the identification of two deleterious mutations of the STRA6 gene. RESULTS The child was a compound heterozygote for two previously reported mutations, a paternally inherited missense mutation (c.878C>T [p.Pro293Leu] and a maternally inherited frameshift mutation (c.50_52delACTinsCC [p. Asp17Alafs*55]), producing a premature stop codon. CONCLUSION The diagnosis of Matthew-Wood syndrome should be considered in all fetuses with microphthalmia/anophthalmia. It requires an extensive ultrasound/MRI examination of the lung, heart, and diaphragm. Birth Defects Research 109:251–253, 2017. © 2017 Wiley Periodicals, Inc. |
| Databáze: | OpenAIRE |
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