New phenotypes associated with 3q29 duplication syndrome: Results from the 3q29 registry

American Journal of Medical Genetics. Part a
Rebecca M PollakJennifer G Mulle

Abstract

3q29 duplication syndrome (3q29dup) is a rare genomic disorder caused by a 1.6 Mb duplication (GRCh38 chr3:195,998,000-197,623,000). Case reports indicate the 3q29dup is likely to be pathogenic, but the full range of manifestations is not well understood. We used the 3q29 registry (https://3q29.com) to ascertain 31 individuals with 3q29dup, the largest cohort ever surveyed in a systematic way. For comparison, we ascertained 117 individuals with the reciprocal 3q29 deletion and 64 typically developing controls. We used a custom medical and demographic questionnaire to assess physical and developmental phenotypes, and two standardized instruments, the Social Responsiveness Scale and Child Behavior Checklist/Adult Behavior Checklist, to assess social disability. Participants with 3q29dup report a high rate of problems in the first year of life (80.6%), including feeding problems (55%), failure to gain weight (42%), hypotonia (39%), and respiratory distress (29%). In early childhood, learning problems (71.0%) and seizures (25.8%) are common. Additionally, the rate of self-reported autism spectrum disorder diagnoses (39%) is substantially elevated compared to the general population, suggesting that the 3q29 duplication may be an aut...Continue Reading

References

Sep 9, 1999·Zeitschrift für Kinder- und Jugendpsychiatrie und Psychotherapie·M NoterdaemeH Amorosa
Feb 5, 2008·American Journal of Medical Genetics. Part a·Emily C LisiDenise A S Batista
Aug 16, 2011·Nature Genetics·Gregory M CooperEvan E Eichler
Aug 17, 2011·Genetics in Medicine : Official Journal of the American College of Medical Genetics·Erin B KaminskyChrista L Martin
Oct 11, 2011·Anales de pediatría : publicación oficial de la Asociación Española de Pediatría (A.E.P.)·F Aleixandre BlanquerF Galán Sánchez
Mar 1, 2011·Journal of Psychopathology and Behavioral Assessment·Carla A MazefskyNancy Minshew
May 25, 2013·Clinical Genetics·K F SchilterE V Semina
Dec 20, 2013·Nature·Hreinn StefanssonKari Stefansson
May 20, 2014·American Journal of Medical Genetics. Part a·Alberto Fernández-JaénMaría Carmen Sánchez Hombre
May 27, 2015·JAMA : the Journal of the American Medical Association·Katrin MännikAlexandre Reymond
Jan 8, 2016·American Journal of Medical Genetics. Part a·Megan R GlassfordUNKNOWN Unique Rare Chromosome Disorder Support Group
Aug 11, 2017·MMWR. Morbidity and Mortality Weekly Report·Matthew M Zack, Rosemarie Kobau
Jan 8, 2018·Clinical Chemistry and Laboratory Medicine : CCLM·Andrea VitaleBarbara Lombardo
Mar 5, 2018·European Journal of Medical Genetics·Elisa TassanoPatrizia Ronchetto
Jun 20, 2019·Neuropsychopharmacology : Official Publication of the American College of Neuropsychopharmacology·Masayuki BabaTakanobu Nakazawa
Sep 25, 2019·Nature Medicine·Stephan J SandersCarrie E Bearden

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Citations

Jan 19, 2021·Current Opinion in Genetics & Development·Samuel Jra ChawnerMichael J Owen
Jun 17, 2021·Translational Psychiatry·Esra SefikJennifer G Mulle
Jul 9, 2021·American Journal of Human Genetics·Tuomo MantereLaïla El Khattabi

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