title: Both a frameshift and a missense mutation of the STRA6 gene observed in an infant with the Matthew-Wood syndrome.
abstract: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.
authors.affiliation: Obstetrics, Gynecology, and Gynecological Oncology, Medical University of Lodz, Lodz, Poland.
authors.forename: Samantha
authors.initials: S
authors.lastname: Sadowski
authors.affiliation: Service de Génétique Médicale, Pavillon Lefebvre EA-455 UPSIII, Hôpital Purpan CHU Toulouse, France.
authors.forename: Nicolas
authors.initials: N
authors.lastname: Chassaing
authors.affiliation: Department of Perinatology and Gynecology, Polish Mother's Memorial Hospital - Research Institute, Lodz, Poland.|Scientific Laboratory of Center of Medical Laboratory Diagnostics, Polish Mother's Memorial Hospital - Research Institute, Lodz, Poland.
authors.forename: Zuzanna
authors.initials: Z
authors.lastname: Gaj
authors.affiliation: Department of Pathology, Polish Mother's Memorial Hospital - Research Institute, Lodz, Poland.
authors.forename: Ewa
authors.initials: E
authors.lastname: Czichos
authors.affiliation: Duchess Anna Mazowiecka Public Teaching Hospital, Warsaw, Poland.
authors.forename: Jan
authors.initials: J
authors.lastname: Wilczynski
authors.affiliation: Obstetrics, Gynecology, and Gynecological Oncology, Medical University of Lodz, Lodz, Poland.|Department of Perinatology and Gynecology, Polish Mother's Memorial Hospital - Research Institute, Lodz, Poland.
authors.forename: Dorota
authors.initials: D
authors.lastname: Nowakowska
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D000853:Anophthalmos / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D017809:Fatal Outcome; D005260:Female; D016368:Frameshift Mutation; D015870:Gene Expression; D006801:Humans; D007223:Infant; D040582:Inheritance Patterns; D008168:Lung / Q000002:abnormalities / Q000473:pathology; D008171:Lung Diseases / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D008297:Male; D008565:Membrane Proteins / Q000235:genetics*; D008850:Microphthalmos / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology; D020125:Mutation, Missense; D011247:Pregnancy; D012131:Respiratory Insufficiency / Q000175:diagnosis / Q000235:genetics* / Q000473:pathology
chemical_list: D008565:Membrane Proteins; C519685:STRA6 protein, human
keywords: Matthew-Wood syndrome; STRA6 gene mutations; anophthalmia