Abstract
Noonan syndrome-like disorder with loose anagen hair-2 (NSLH2) is an extremely rare disease caused by a heterozygous mutation in the PPP1CB gene on chromosome 2p23. The syndrome causes not only numerous dysmorphic features but also hypotonia, developmental delay, and even intellectual disability. We report the first case of NSLH2 in Asia and the 16th in the world. Moreover, the first case of PPP1CB-related infantile spasms. The clinical and therapeutic significance is outlined in this paper. We found a male infant presented with severe intractable epileptic spasms. Although certain clinical features of somatic dysmorphism were noted, numerous laboratory and neuroimaging studies failed to identify the cause. To determine the underlying etiology, whole-exome sequencing was conducted. We identified a de novo heterozygous mutation, NM_206876.1: c.548A > C (p.Glu183Ala), in the PPP1CB gene. His seizures were almost refractory to conventional antiepileptic drugs but relative seizure control was eventually achieved with a ketogenic diet. This result expands the clinical spectrum of NSLH2 and strengthens the association between the PPP1CB gene and epileptic seizures. Furthermore, we suggest that the ketogenic diet can offer seizure red...Continue Reading
References
Jan 13, 1994·Biochimica Et Biophysica Acta·H M BarkerP T Cohen
Aug 27, 2004·Epilepsia·Hoon Chul KangHeung Dong Kim
Mar 11, 2005·Cerebral Cortex·Jill R BordelonE Chris Muly
Nov 28, 2007·Developmental Medicine and Child Neurology·Grace YoonKatherine A Rauen
May 6, 2008·Lancet Neurology·Elizabeth G NealJ Helen Cross
Apr 1, 2010·Nature Methods·Ivan A AdzhubeiShamil R Sunyaev
Apr 17, 2010·Brain & Development·Koichi AizakiYoichi Matsubara
Sep 30, 2010·Pediatrics·Alicia A RomanoJacqueline A Noonan
Aug 30, 2011·Seizure : the Journal of the British Epilepsy Association·Masao AdachiYoichi Matsubara
Jun 22, 2012·Journal of Medical Genetics·Xiao Chang, Kai Wang
Jan 24, 2013·Brain & Development·Keisuke WakusawaKazuhiro Haginoya
Jan 28, 2014·Human Molecular Genetics·Hilary C MartinJenny C Taylor
Oct 31, 2014·PLoS Genetics·Fadi F HamdanJacques L Michaud
Sep 18, 2015·Nature Protocols·Hui Yang, Kai Wang
Jun 7, 2016·American Journal of Medical Genetics. Part a·Karen W GrippWilliam B Dobyns
Sep 30, 2016·Human Genetics·Lijiang MaWendy K Chung
Nov 22, 2016·American Journal of Medical Genetics. Part a·Regina M ZambranoYves Lacassie
Feb 6, 2017·Developmental Medicine and Child Neurology·Shruti GargJonathan Green
Feb 18, 2017·American Journal of Medical Genetics. Part a·Débora BertolaChong Kim
Jul 28, 2017·American Journal of Medical Genetics. Part a·Paul KruszkaMaximilian Muenke
Apr 4, 2018·Pediatric Neurology·Elaine WirrellKatherine Nickels
Apr 8, 2018·Brain & Development·Da-Jyun SuKun-Long Hung
May 5, 2018·Epilepsy Research·Ravindra AryaUNKNOWN pediatric Status Epilepticus Research Group (pSERG)
Jun 14, 2018·Genes, Brain, and Behavior·T LiL Jiang
Citations
Aug 23, 2020·Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology·Piero PavoneMartino Ruggieri
Jan 26, 2021·American Journal of Medical Genetics. Part a·Victoria HuckstadtLuis Pablo Gravina
Feb 3, 2021·Molecular and Cellular Biology·Jason J Kwon, William C Hahn