1. Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series
- Author
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Kimberly Goodspeed, Sailaja Golla, Craig M. Powell, Mary Ann Morris, Patricia Evans, and Cassandra Rutledge Newsom
- Subjects
Adult ,0301 basic medicine ,Pediatrics ,medicine.medical_specialty ,Adolescent ,Pitt–Hopkins syndrome ,Article ,Diagnosis, Differential ,03 medical and health sciences ,Transcription Factor 4 ,0302 clinical medicine ,Intellectual Disability ,Intellectual disability ,Gene duplication ,Humans ,Hyperventilation ,Medicine ,Child ,Retrospective Studies ,business.industry ,Genetic disorder ,Facies ,Genetic Variation ,Infant ,medicine.disease ,Phenotype ,030104 developmental biology ,Somatic mosaicism ,Autism spectrum disorder ,Child, Preschool ,Pediatrics, Perinatology and Child Health ,Autism ,Neurology (clinical) ,business ,Psychomotor delay ,030217 neurology & neurosurgery - Abstract
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.
- Published
- 2018