Van Allen-Myhre Syndrome and Goltz Syndrome are allelic. Report of two cases with PORCN gene mutations. S. Parkash1,2, S. Keating3, I. Van den Veyver4, K. Siriwardena5, E. Kolomietz2, A. Toi6, C. Zaitsoff7, D. Purvis8, A. Patel4, X. Wang4, D. Chitayat1, 2 1) Dept Clinical/Metabolic Gen, Hosp Sick Children, Toronto, ON, Canada; 2) Prenatal Diagnosis and Medical Genetics Program, Mount Sinai Hospital, Toronto, Canada; 3) Department of Laboratory Medicine and Pathobiology, Mount Sinai Hospital, Toronto, Canada; 4) Department of Obstetrics and Gynecology and Molecular and Human Genetics, Baylor College of Medicine, Houston, USA; 5) Clinical Genetics NZ, Auckland, New Zealand; 6) Department of Diagnostic Imaging, Mount Sinai Hospital, Toronto, Canada; 7) Northern Regional Genetic Service, Auckland Hospital, New Zealand; 8) Department of Dermatology, Auckland City Hospital, New Zealand.
Van Allen-Myhre Syndrome (VAMS) is a rare condition consisting of ectopia cordis, omphalocele, ectrodactyly, absent sacrum, radial hypoplasia, microphthalmia, hemifacial microsomia and cutis aplasia, among other findings (Van Allen and Myhre, 1991). Some of these features overlap with findings in Goltz syndrome (GS), which suggest that they are allelic. The finding that GS is caused by mutations in the PORCN gene enabled us to test this possibility. We report two cases with VAMS, one of which supports the assumption that VAM and GS are allelic. Case 1 - A fetus with absent and possibly bifid sternum, omphalocele, hyperlordosis, scoliosis, and bilateral ectrodactyly consistent with VAMS. Karyotype and microarray analysis were normal, with no deletion in the Xp22 region. A deletion in the PORCN gene was detected by qPCR. Case 2 - A male with an antenatal diagnosis of Klinefelter syndrome, bladder extrophy, ectrodactyly, symmetrical IUGR, hypoplastic nails, linear skin lesions, right hemifacial microsomia, and bilateral microphthalmia consistent with VAMS. No mutation in the PORCN gene was found. The finding of mutations in the PORCN gene in our patients supports the assumption that VAMS is the same condition as GS.