title: Expansion of the TARP syndrome phenotype associated with de novo mutations and mosaicism.
abstract: The TARP syndrome (Talipes equinovarus, Atrial septal defect, Robin sequence, and Persistent left superior vena cava) is an X-linked disorder that was determined to be caused by mutations in RBM10 in two families, and confirmed in a subsequent case report. The first two original families were quite similar in phenotype, with uniform early lethality although a confirmatory case report showed survival into childhood. Here we report on five affecteds from three newly recognized families, including patients with atypical manifestations. None of the five patients had talipes and others also lacked cardinal TARP features of Robin sequence and atrial septal defect. All three families demonstrated de novo mutations, and one of the families had two recurrences, with demonstrable maternal mosaicism.
authors.affiliation: Genetic Disease Research Branch, National Human Genome Research Institute, National Institutes of Health, Bethesda, Maryland.
authors.forename: Jennifer J
authors.initials: JJ
authors.lastname: Johnston
authors.forename: Julie C
authors.initials: JC
authors.lastname: Sapp
authors.forename: Cynthia
authors.initials: C
authors.lastname: Curry
authors.forename: Margaret
authors.initials: M
authors.lastname: Horton
authors.forename: Eyby
authors.initials: E
authors.lastname: Leon
authors.forename: Kristina
authors.initials: K
authors.lastname: Cusmano-Ozog
authors.forename: William B
authors.initials: WB
authors.lastname: Dobyns
authors.forename: Louanne
authors.initials: L
authors.lastname: Hudgins
authors.forename: Elaine
authors.initials: E
authors.lastname: Zackai
authors.forename: Leslie G
authors.initials: LG
authors.lastname: Biesecker
mesh_terms: D001921:Brain / Q000473:pathology; D002869:Chromosome Aberrations; D003025:Clubfoot / Q000175:diagnosis* / Q000235:genetics*; D059472:Exome; D019066:Facies; D017809:Fatal Outcome; D005260:Female; D056726:Genetic Association Studies; D006330:Heart Defects, Congenital / Q000175:diagnosis* / Q000235:genetics*; D059014:High-Throughput Nucleotide Sequencing; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D018810:Magnetic Resonance Angiography; D008297:Male; D009030:Mosaicism; D009154:Mutation; D010641:Phenotype; D010855:Pierre Robin Syndrome / Q000175:diagnosis* / Q000235:genetics*
keywords: RBM10; TARP