Clinical and genetic analysis of a rare syndrome associated with neoteny

Genetics in Medicine : Official Journal of the American College of Medical Genetics
Richard F WalkerBrock A Peters

Abstract

PurposeWe describe a novel syndrome in seven female patients with extreme developmental delay and neoteny.MethodsAll patients in this study were female, aged 4 to 23 years, were well below the fifth percentile in height and weight, had failed to develop sexually, and lacked the use of language. Karyotype and array chromosome genomic hybridization analysis failed to identify large-scale structural variations. To further understand the underlying cause of disease in these patients, whole-genome sequencing was performed.ResultsIn five patients, coding de novo mutations (DNMs) were found in five different genes. These genes fell into similar functional categories of transcription regulation and chromatin modification. Comparison to a control population suggested that individuals with neotenic complex syndrome (NCS)-a name that we propose herein-could have an excess of rare inherited variants in genes associated with developmental delay and autism, although the difference was not significant.ConclusionWe describe an extreme form of developmental delay, with the defining characteristic of neoteny. In most patients we identified coding DNMs in a set of genes intolerant of haploinsufficiency; however, it is not clear whether these cont...Continue Reading

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Citations

Oct 23, 2018·American Journal of Medical Genetics. Part a·Ameera BalobaidMoeenaldeen Al-Sayed

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Methods Mentioned

BETA
histone acetylation

Software Mentioned

Complete Genomics
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GREAT

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