Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series

Kimberly Goodspeed, Cassandra Newsom, Mary Ann Morris, Craig Powell, Patricia Evans, Sailaja Golla

Research output: Contribution to journalReview articlepeer-review

34 Scopus citations


Pitt-Hopkins syndrome (PTHS) is a rare, genetic disorder caused by a molecular variant of TCF4 which is involved in embryologic neuronal differentiation. PTHS is characterized by syndromic facies, psychomotor delay, and intellectual disability. Other associated features include early-onset myopia, seizures, constipation, and hyperventilation-apneic spells. Many also meet criteria for autism spectrum disorder. Here the authors present a series of 23 PTHS patients with molecularly confirmed TCF4 variants and describe 3 unique individuals. The first carries a small deletion but does not exhibit the typical facial features nor the typical pattern of developmental delay. The second exhibits typical facial features, but has attained more advanced motor and verbal skills than other reported cases to date. The third displays typical features of PTHS, however inherited a large chromosomal duplication involving TCF4 from his unaffected father with somatic mosaicism. To the authors’ knowledge, this is the first chromosomal duplication case reported to date.

Original languageEnglish (US)
Pages (from-to)233-244
Number of pages12
JournalJournal of child neurology
Issue number3
StatePublished - Mar 1 2018


  • autism
  • behavior
  • developmental delay
  • genetics
  • intellectual disability
  • ophthalmology
  • pediatric
  • seizures

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Clinical Neurology


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