Abstract
Phelan-McDermid syndrome (PMS, OMIM 606232) is a heterozygous contiguous gene microdeletion syndrome occurring at the distal region of chromosome 22q13. This deletion encompasses the SHANK3 gene at 22q13.33, which is thought to be the critical gene for the neurodevelopmental features seen in this syndrome. PMS is typically characterized by intellectual disability, autism spectrum disorder, absent to severely delayed speech, neonatal hypotonia, and dysmorphic features. Two patients presenting with classic clinical features of PMS have been reported to have interstitial microdeletions in the 22q13.2 region that map proximal to the SHANK3 gene (0.54 and 0.72 Mb, respectively). Here, we describe a 13-month-old girl with a de novo 1.16 Mb interstitial deletion in the 22q13.2 region who presented with global developmental delay, subtle dysmorphic features, and immunodeficiency. This deletion overlaps with the two previously published cases and five cases from the DECIPHER database. All eight patients share features common to patients with PMS including developmental delay and language delay, which suggests that this represents a previously unrecognized microdeletion syndrome in the 22q13.2 region. Our patient's deletion encompasses t...Continue Reading
References
Aug 18, 2001·Science·J S ThompsonC Ambrose
Aug 16, 2003·Journal of Medical Genetics·H L WilsonH E McDermid
May 15, 2004·Proceedings of the National Academy of Sciences of the United States of America·Makoto OhtsukaTakashi Saito
Aug 6, 2004·The Journal of Immunology : Official Journal of the American Association of Immunologists·Yoshiteru SasakiMarc Schmidt-Supprian
Apr 16, 2005·Molecular and Cellular Biology·Valentina GburcikDidier Picard
Jun 5, 2008·European Journal of Human Genetics : EJHG·Heather L WilsonHeather E McDermid
Sep 24, 2008·Molecular and Cellular Biology·Christopher W TsangWilliam S Trimble
Apr 7, 2009·American Journal of Human Genetics·Helen V FirthNigel P Carter
Aug 12, 2009·Proceedings of the National Academy of Sciences of the United States of America·Klaus WarnatzHermann Eibel
Nov 18, 2010·PloS One·Marcel NakahiraJörg Kobarg
Jan 1, 2014·American Journal of Medical Genetics. Part a·Kristi SimensonKatrin Õunap
Apr 5, 2014·American Journal of Medical Genetics. Part a·Vittoria DisciglioAlessandra Renieri
Sep 18, 2014·Journal of Medical Genetics·Christian BabbsAndrew O M Wilkie
Jul 21, 2016·European Journal of Human Genetics : EJHG·Johanna SchäfgenHartmut Engels
Aug 19, 2016·Nature·Monkol LekUNKNOWN Exome Aggregation Consortium
Feb 23, 2017·Frontiers in Cell and Developmental Biology·Katharina Neubauer, Barbara Zieger
Citations
Jun 9, 2020·EMBO Reports·Chao FengJianwei Jiao
Nov 3, 2020·Frontiers in Genetics·Ying LinShizhong Han
Jan 9, 2021·Translational Psychiatry·María J ArranzJuan Carlos Pascual
Sep 25, 2021·Human Molecular Genetics·Tess LevyUNKNOWN Developmental Synaptopathies Consortium