Abstract
In Potocki-Shaffer syndrome (PSS), the full phenotypic spectrum is manifested when deletions are at least 2.1 Mb in size at 11p11.2. The PSS-associated genes EXT2 and ALX4, together with PHF21A, all map to this region flanked by markers D11S1393 and D11S1319. Being proximal to EXT2 and ALX4, a 1.1 Mb region containing 12 annotated genes had been identified by deletion mapping to explain PSS phenotypes except multiple exostoses and parietal foramina. Here, we report a male patient with partial PSS phenotypes including global developmental delay, craniofacial anomalies, minor limb anomalies, and micropenis. Using microarray, qPCR, RT-qPCR, and Western blot analyses, we refined the candidate gene region, which harbors five genes, by excluding two genes, SLC35C1 and CRY2, which resulted in a corroborating role of PHF21A in developmental delay and craniofacial anomalies. This microdeletion contains the least number of genes at 11p11.2 reported to date. Additionally, we also discuss the phenotypes observed in our patient with respect to those of published cases of microdeletions across the Potocki-Shaffer interval.
References
Sep 1, 1996·Nature Genetics·D StickensG A Evans
Mar 4, 2000·Nature Genetics·G WaeberP Froguel
Jan 4, 2001·Nature Genetics·L A MavrogiannisA O Wilkie
Oct 5, 2001·Molecular and Cellular Biology·A AbderrahmaniG Waeber
Nov 21, 2001·Nature Reviews. Genetics·E A Lindsay
Mar 21, 2002·Clinical Genetics·C R HallJ T Hecht
Dec 21, 2002·The Journal of Biological Chemistry·Mohamed-Ali HakimiRamin Shiekhattar
Mar 11, 2003·Nature Genetics·Catherine DodéJean-Pierre Hardelin
Aug 10, 2004·Nature Genetics·Lisenka E L M VissersAd Geurts van Kessel
Aug 25, 2004·Biochemical and Biophysical Research Communications·Shigeki IwaseTadashi Baba
Dec 29, 2004·Cell·Yujiang ShiYang Shi
Apr 27, 2005·European Journal of Human Genetics : EJHG·Keiko WakuiLisa G Shaffer
Aug 10, 2007·Nature·Fei LanYang Shi
Feb 16, 2010·Nature Genetics·Santhosh GirirajanEvan E Eichler
Feb 25, 2010·Nature Genetics·Joris A Veltman, Han G Brunner
Jul 10, 2012·American Journal of Human Genetics·Hyung-Goo KimJames F Gusella
Dec 15, 2012·American Journal of Medical Genetics. Part a·Nathan D MontgomeryArthur S Aylsworth
May 15, 2013·Current Opinion in Genetics & Development·Gemma L Carvill, Heather C Mefford
May 20, 2014·American Journal of Medical Genetics. Part a·Sanjin TunovicAnne M Slavotinek
Jul 22, 2014·American Journal of Medical Genetics. Part a·Hiromi Koso NishimotoHyung-Goo Kim
Citations
Jan 28, 2017·American Journal of Medical Genetics. Part a·Caroline McCoolLorraine Potocki
Jun 3, 2017·Neuroscience·Robert S PorterShigeki Iwase
Jul 1, 2017·International Journal of Molecular Sciences·Jeong-Hoon KimKyoung Sang Cho
Sep 7, 2016·Nature Communications·Amanda C MitchellSchahram Akbarian
Mar 26, 2019·The Laryngoscope·Meichao MenJia-Da Li
Dec 19, 2018·Nature Genetics·Bradley P CoeEvan E Eichler
Oct 28, 2019·Molecular Autism·Hyung-Goo KimCheol-Hee Kim
Nov 30, 2018·European Journal of Human Genetics : EJHG·Kohei HamanakaNaomichi Matsumoto
Nov 1, 2020·Brain Sciences·Slavica TrajkovaAlfredo Brusco
Apr 11, 2021·BMC Medical Genomics·Xuejiao ChenMeizhen Dai