Research
Print page Print page
Switch language
Rigshospitalet - a part of Copenhagen University Hospital
Published

First reported adult patient with TARP syndrome: A case report

Research output: Contribution to journalJournal articleResearchpeer-review

DOI

  1. Clinical characteristics and quality of life, depression, and anxiety in adults with neurofibromatosis type 1: A nationwide study

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Safety of switching to Migalastat from enzyme replacement therapy in Fabry disease: Experience from the Phase 3 ATTRACT study

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Ocular albinism with infertility and late-onset sensorineural hearing loss

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Stakeholders in psychiatry and their attitudes toward receiving pertinent and incident findings in genomic research

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. von Hippel-Lindau development in children and adolescents

    Research output: Contribution to journalJournal articleResearchpeer-review

  1. Genetisk screening af adopterede raske individer

    Research output: Contribution to journalJournal articleResearchpeer-review

  2. Genetisk screening af kommende forældre

    Research output: Contribution to journalJournal articleResearchpeer-review

  3. Det danske screeningsprogram for hæmoglobinopatier

    Research output: Contribution to journalJournal articleResearchpeer-review

  4. Expanding the cerebrovascular phenotype of the p.R258H variant in ACTA2 related hereditary thoracic aortic disease (HTAD)

    Research output: Contribution to journalJournal articleResearchpeer-review

  5. Udredning og opfølgning af familiær aneurisme sygdom

    Research output: Other contributionCommunication

  • Allan T Højland
  • Ihab Lolas
  • Henrik Okkels
  • Charlotte K Lautrup
  • Birgitte R Diness
  • Michael B Petersen
  • Irene K Nielsen
View graph of relations

TARP syndrome (talipes equinovarus, atrial septal defect, Robin sequence, and persistence of the left superior vena cava) is a rare X-linked syndrome often resulting in pre- or post-natal lethality in affected males. In 2010, RBM10 was identified as the disease-causing gene, and we describe the first adult patient with TARP syndrome at age 28 years, hereby expanding the phenotypic spectrum. Our patient had Robin sequence, atrial septal defect, intellectual disability, scoliosis, and other findings previously associated with TARP syndrome. In addition, he had a prominent nose and nasal bridge, esotropia, displacement of lacrimal points in the cranial direction, small teeth, and chin dimple, which are the findings that have not previously been associated with TARP syndrome. Our patient was found to carry a hemizygous c.273_283delinsA RBM10 mutation in exon 4, an exon skipped in three of five protein-coding transcripts, suggesting a possible explanation for our patient surviving to adulthood. Direct sequencing of maternal DNA indicated possible mosaicism, which was confirmed by massive parallel sequencing. One of two sisters were heterozygous for the mutation. Therefore, we recommend sisters of patients with TARP syndrome be carrier tested before family planning regardless of carrier testing results of the mother. Based on our patient and previously reported patients, we suggest TARP syndrome be considered as a possible diagnosis in males with severe or profound intellectual disability combined with septal heart defect, and Robin sequence, micrognathia, or cleft palate.

Original languageEnglish
JournalAmerican Journal of Medical Genetics. Part A
Volume176
Issue number12
Pages (from-to)2915-2918
Number of pages4
ISSN1552-4825
DOIs
Publication statusPublished - Dec 2018

ID: 56213870