Literature DB >> 28794914

Hyperphosphatasia with Mental Retardation Syndrome Due to a Novel Mutation in PGAP3.

Sheela Nampoothiri1, Malavika Hebbar2, Arun Grace Roy3, Sheena P Kochumon1, Stephanie Bielas4, Anju Shukla2, Katta M Girisha2.   

Abstract

Hyperphosphatasia with mental retardation syndrome is a heterogeneous genetic condition. Two siblings aged 5 years and 3 years were evaluated for global development delay and facial dysmorphism. A novel missense variant, c.851A>G (p.H284R, NM_033419.3), in PGAP3 was identified using whole-exome sequencing. Assays for elevated alkaline phosphatase and exome sequencing can be useful for the diagnosis of hyperphosphatasia with mental retardation syndrome.

Entities:  

Keywords:  PGAP3; alkaline phosphatase; exome sequencing; hyperphosphatasia with mental retardation syndrome

Year:  2017        PMID： 28794914      PMCID： PMC5548534          DOI： 10.1055/s-0037-1599148

Source DB:  PubMed          Journal:  J Pediatr Genet        ISSN： 2146-460X


  7 in total

1.  Mutations in PIGO, a member of the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation.

Authors:  Peter M Krawitz; Yoshiko Murakami; Jochen Hecht; Ulrike Krüger; Susan E Holder; Geert R Mortier; Barbara Delle Chiaie; Elfride De Baere; Miles D Thompson; Tony Roscioli; Szymon Kielbasa; Taroh Kinoshita; Stefan Mundlos; Peter N Robinson; Denise Horn
Journal:  Am J Hum Genet       Date:  2012-06-07       Impact factor: 11.025

2.  Identity-by-descent filtering of exome sequence data identifies PIGV mutations in hyperphosphatasia mental retardation syndrome.

Authors:  Peter M Krawitz; Michal R Schweiger; Christian Rödelsperger; Carlo Marcelis; Uwe Kölsch; Christian Meisel; Friederike Stephani; Taroh Kinoshita; Yoshiko Murakami; Sebastian Bauer; Melanie Isau; Axel Fischer; Andreas Dahl; Martin Kerick; Jochen Hecht; Sebastian Köhler; Marten Jäger; Johannes Grünhagen; Birgit Jonske de Condor; Sandra Doelken; Han G Brunner; Peter Meinecke; Eberhard Passarge; Miles D Thompson; David E Cole; Denise Horn; Tony Roscioli; Stefan Mundlos; Peter N Robinson
Journal:  Nat Genet       Date:  2010-08-29       Impact factor: 38.330

3.  Mutations in PGAP3 impair GPI-anchor maturation, causing a subtype of hyperphosphatasia with mental retardation.

Authors:  Malcolm F Howard; Yoshiko Murakami; Alistair T Pagnamenta; Cornelia Daumer-Haas; Björn Fischer; Jochen Hecht; David A Keays; Samantha J L Knight; Uwe Kölsch; Ulrike Krüger; Steffen Leiz; Yusuke Maeda; Daphne Mitchell; Stefan Mundlos; John A Phillips; Peter N Robinson; Usha Kini; Jenny C Taylor; Denise Horn; Taroh Kinoshita; Peter M Krawitz
Journal:  Am J Hum Genet       Date:  2014-01-16       Impact factor: 11.025

4.  Glycosylphosphatidylinositol (GPI) anchor deficiency caused by mutations in PIGW is associated with West syndrome and hyperphosphatasia with mental retardation syndrome.

Authors:  Tomohiro Chiyonobu; Norimitsu Inoue; Masafumi Morimoto; Taroh Kinoshita; Yoshiko Murakami
Journal:  J Med Genet       Date:  2013-12-23       Impact factor: 6.318

5.  Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.

Authors:  Lars Hansen; Hasan Tawamie; Yoshiko Murakami; Yuan Mang; Shoaib ur Rehman; Rebecca Buchert; Stefanie Schaffer; Safia Muhammad; Mads Bak; Markus M Nöthen; Eric P Bennett; Yusuke Maeda; Michael Aigner; André Reis; Taroh Kinoshita; Niels Tommerup; Shahid Mahmood Baig; Rami Abou Jamra
Journal:  Am J Hum Genet       Date:  2013-04-04       Impact factor: 11.025

6.  Mutations in PIGY: expanding the phenotype of inherited glycosylphosphatidylinositol deficiencies.

Authors:  Biljana Ilkovski; Alistair T Pagnamenta; Gina L O'Grady; Taroh Kinoshita; Malcolm F Howard; Monkol Lek; Brett Thomas; Anne Turner; John Christodoulou; David Sillence; Samantha J L Knight; Niko Popitsch; David A Keays; Consuelo Anzilotti; Anne Goriely; Leigh B Waddell; Fabienne Brilot; Kathryn N North; Noriyuki Kanzawa; Daniel G Macarthur; Jenny C Taylor; Usha Kini; Yoshiko Murakami; Nigel F Clarke
Journal:  Hum Mol Genet       Date:  2015-08-20       Impact factor: 6.150

7.  Rare Noncoding Mutations Extend the Mutational Spectrum in the PGAP3 Subtype of Hyperphosphatasia with Mental Retardation Syndrome.

Authors:  Alexej Knaus; Tomonari Awaya; Ingo Helbig; Zaid Afawi; Manuela Pendziwiat; Jubran Abu-Rachma; Miles D Thompson; David E Cole; Steve Skinner; Fran Annese; Natalie Canham; Michal R Schweiger; Peter N Robinson; Stefan Mundlos; Taroh Kinoshita; Arnold Munnich; Yoshiko Murakami; Denise Horn; Peter M Krawitz
Journal:  Hum Mutat       Date:  2016-05-19       Impact factor: 4.878
  7 in total
  4 in total

1.  Characterization of glycosylphosphatidylinositol biosynthesis defects by clinical features, flow cytometry, and automated image analysis.

Authors:  Alexej Knaus; Jean Tori Pantel; Manuela Pendziwiat; Nurulhuda Hajjir; Max Zhao; Tzung-Chien Hsieh; Max Schubach; Yaron Gurovich; Nicole Fleischer; Marten Jäger; Sebastian Köhler; Hiltrud Muhle; Christian Korff; Rikke S Møller; Allan Bayat; Patrick Calvas; Nicolas Chassaing; Hannah Warren; Steven Skinner; Raymond Louie; Christina Evers; Marc Bohn; Hans-Jürgen Christen; Myrthe van den Born; Ewa Obersztyn; Agnieszka Charzewska; Milda Endziniene; Fanny Kortüm; Natasha Brown; Peter N Robinson; Helenius J Schelhaas; Yvonne Weber; Ingo Helbig; Stefan Mundlos; Denise Horn; Peter M Krawitz
Journal:  Genome Med       Date:  2018-01-09       Impact factor: 11.117

2.  A novel PGAP3 mutation in a Croatian boy with brachytelephalangy and a thin corpus callosum.

Authors:  Tomohiro Sakaguchi; Tamara Žigman; Danijela Petković Ramadža; Lana Omerza; Silvija Pušeljić; Zrinka Ereš Hrvaćanin; Noriko Miyake; Naomichi Matsumoto; Ivo Barić
Journal:  Hum Genome Var       Date:  2018-03-08

Review 3.  Clinical, genetic, and molecular characterization of hyperphosphatasia with mental retardation: a case report and literature review.

Authors:  Layal Abi Farraj; Wassim Daoud Khatoun; Naji Abou Chebel; Victor Wakim; Katia Dawali; Michella Ghassibe-Sabbagh
Journal:  Diagn Pathol       Date:  2019-11-04       Impact factor: 2.644

4.  Spectrum of Neurological Symptoms in Glycosylphosphatidylinositol Biosynthesis Defects: Systematic Review.

Authors:  Justyna Paprocka; Michał Hutny; Jagoda Hofman; Agnieszka Tokarska; Magdalena Kłaniewska; Krzysztof Szczałuba; Agnieszka Stembalska; Aleksandra Jezela-Stanek; Robert Śmigiel
Journal:  Front Neurol       Date:  2022-01-04       Impact factor: 4.003
  4 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.