Literature DB >> 26219881

Phenotypic Expansion of Congenital Disorder of Glycosylation Due to SRD5A3 Null Mutation.

Beyhan Tuysuz1, Davut Pehlivan2, Ahmet Özkök3, Shalini Jhangiani4, Cengiz Yalcinkaya5, Çiğdem Aktuğlu Zeybek6, Donna Marie Muzny4, James R Lupski2,4, Richard Gibbs2,4, Jaak Jaeken7.   

Abstract

We present a boy, admitted at 4 months, with facial dysmorphism, hypertrichosis, loose skin, bilateral inguinal hernia, severe hypotonia, psychomotor disability, seizures with hypsarrhythmia (West syndrome), hepatosplenomegaly, increased serum transaminases, iris coloboma, glaucoma, corneal clouding and bilateral dilated lateral ventricles, and extra-axial post-cerebellar space. Serum transferrin isoelectrofocusing (IEF) showed a type 1 pattern. Whole-exome genotyping showed a previously reported homozygous nonsense mutation c.320G>A; p.Trp107X in SRD5A3. Epilepsy and glaucoma have been reported only once in the 19 described SRD5A3-congenital glycosylation defect patients, and corneal clouding not at all.

Entities:  

Keywords:  Congenital glycosylation defect; Corneal clouding; Epilepsy; SRD5A3

Year:  2015        PMID： 26219881      PMCID： PMC4864711          DOI： 10.1007/8904_2015_478

Source DB:  PubMed          Journal:  JIMD Rep        ISSN： 2192-8304


  12 in total

1.  Next generation sequencing in a family with autosomal recessive Kahrizi syndrome (OMIM 612713) reveals a homozygous frameshift mutation in SRD5A3.

Authors:  Kimia Kahrizi; Cougar Hao Hu; Masoud Garshasbi; Seyedeh Sedigheh Abedini; Shirin Ghadami; Roxana Kariminejad; Reinhard Ullmann; Wei Chen; H-Hilger Ropers; Andreas W Kuss; Hossein Najmabadi; Andreas Tzschach
Journal:  Eur J Hum Genet       Date:  2010-08-11       Impact factor: 4.246

2.  A novel cerebello-ocular syndrome with abnormal glycosylation due to abnormalities in dolichol metabolism.

Authors:  Eva Morava; Ron A Wevers; Vincent Cantagrel; Lies H Hoefsloot; Lihadh Al-Gazali; Jeroen Schoots; Arno van Rooij; Karin Huijben; Connie M A van Ravenswaaij-Arts; Marjolein C J Jongmans; Jolanta Sykut-Cegielska; Georg F Hoffmann; Peter Bluemel; Maciej Adamowicz; Jeroen van Reeuwijk; Bobby G Ng; Jorieke E H Bergman; Hans van Bokhoven; Christian Körner; Dusica Babovic-Vuksanovic; Michel A Willemsen; Joseph G Gleeson; Ludwig Lehle; Arjan P M de Brouwer; Dirk J Lefeber
Journal:  Brain       Date:  2010-09-17       Impact factor: 13.501

3.  A new subtype of a congenital disorder of glycosylation (CDG) with mild clinical manifestations.

Authors:  B Assmann; R Hackler; V Peters; J R Schaefer; T Arndt; E Mayatepek; J Jaeken; G F Hoffmann
Journal:  Neuropediatrics       Date:  2001-12       Impact factor: 1.947

4.  SRD5A3 is required for converting polyprenol to dolichol and is mutated in a congenital glycosylation disorder.

Authors:  Vincent Cantagrel; Dirk J Lefeber; Bobby G Ng; Ziqiang Guan; Jennifer L Silhavy; Stephanie L Bielas; Ludwig Lehle; Hans Hombauer; Maciej Adamowicz; Ewa Swiezewska; Arjan P De Brouwer; Peter Blümel; Jolanta Sykut-Cegielska; Scott Houliston; Dominika Swistun; Bassam R Ali; William B Dobyns; Dusica Babovic-Vuksanovic; Hans van Bokhoven; Ron A Wevers; Christian R H Raetz; Hudson H Freeze; Eva Morava; Lihadh Al-Gazali; Joseph G Gleeson
Journal:  Cell       Date:  2010-07-15       Impact factor: 41.582

5.  An autosomal recessive syndrome of severe mental retardation, cataract, coloboma and kyphosis maps to the pericentromeric region of chromosome 4.

Authors:  Kimia Kahrizi; Hossein Najmabadi; Roxana Kariminejad; Payman Jamali; Mahdi Malekpour; Masoud Garshasbi; Hans Hilger Ropers; Andreas Walter Kuss; Andreas Tzschach
Journal:  Eur J Hum Genet       Date:  2008-09-10       Impact factor: 4.246

6.  A new autosomal recessive syndrome of ocular colobomas, ichthyosis, brain malformations and endocrine abnormalities in an inbred Emirati family.

Authors:  L Al-Gazali; J Hertecant; K Algawi; H El Teraifi; M Dattani
Journal:  Am J Med Genet A       Date:  2008-04-01       Impact factor: 2.802

7.  A new case of CDG-x with stereotyped dystonic hand movements and optic atrophy.

Authors:  V Prietsch; V Peters; R Hackler; R Jakobi; B Assmann; J Fang; C Körner; A Helwig-Rolig; J R Schaefer; G F Hoffmann
Journal:  J Inherit Metab Dis       Date:  2002-05       Impact factor: 4.982

8.  Ophthalmological abnormalities in children with congenital disorders of glycosylation type I.

Authors:  E Morava; H N Wosik; J Sykut-Cegielska; M Adamowicz; M Guillard; R A Wevers; D J Lefeber; J R M Cruysberg
Journal:  Br J Ophthalmol       Date:  2008-11-19       Impact factor: 4.638

9.  Exome sequencing resolves apparent incidental findings and reveals further complexity of SH3TC2 variant alleles causing Charcot-Marie-Tooth neuropathy.

Authors:  James R Lupski; Claudia Gonzaga-Jauregui; Yaping Yang; Matthew N Bainbridge; Shalini Jhangiani; Christian J Buhay; Christie L Kovar; Min Wang; Alicia C Hawes; Jeffrey G Reid; Christine Eng; Donna M Muzny; Richard A Gibbs
Journal:  Genome Med       Date:  2013-06-27       Impact factor: 11.117

10.  Adult phenotype and further phenotypic variability in SRD5A3-CDG.

Authors:  Bülent Kara; Özgecan Ayhan; Gülden Gökçay; Nurdan Başboğaoğlu; Aslıhan Tolun
Journal:  BMC Med Genet       Date:  2014-01-16       Impact factor: 2.103
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  5 in total

1.  High prevalence of multilocus pathogenic variation in neurodevelopmental disorders in the Turkish population.

Authors:  Tadahiro Mitani; Sedat Isikay; Alper Gezdirici; Elif Yilmaz Gulec; Jaya Punetha; Jawid M Fatih; Isabella Herman; Gulsen Akay; Haowei Du; Daniel G Calame; Akif Ayaz; Tulay Tos; Gozde Yesil; Hatip Aydin; Bilgen Geckinli; Nursel Elcioglu; Sukru Candan; Ozlem Sezer; Haktan Bagis Erdem; Davut Gul; Emine Demiral; Muhsin Elmas; Osman Yesilbas; Betul Kilic; Serdal Gungor; Ahmet C Ceylan; Sevcan Bozdogan; Ozge Ozalp; Salih Cicek; Huseyin Aslan; Sinem Yalcintepe; Vehap Topcu; Yavuz Bayram; Christopher M Grochowski; Angad Jolly; Moez Dawood; Ruizhi Duan; Shalini N Jhangiani; Harsha Doddapaneni; Jianhong Hu; Donna M Muzny; Dana Marafi; Zeynep Coban Akdemir; Ender Karaca; Claudia M B Carvalho; Richard A Gibbs; Jennifer E Posey; James R Lupski; Davut Pehlivan
Journal:  Am J Hum Genet       Date:  2021-09-28       Impact factor: 11.025

2.  High N-glycan multiplicity is critical for neuronal adhesion and sensitizes the developing cerebellum to N-glycosylation defect.

Authors:  Daniel Medina-Cano; Ekin Ucuncu; Lam Son Nguyen; Michael Nicouleau; Joanna Lipecka; Jean-Charles Bizot; Christian Thiel; François Foulquier; Nathalie Lefort; Catherine Faivre-Sarrailh; Laurence Colleaux; Ida Chiara Guerrera; Vincent Cantagrel
Journal:  Elife       Date:  2018-10-12       Impact factor: 8.140

3.  Detection of Disease-Causing SNVs/Indels and CNVs in Single Test Based on Whole Exome Sequencing: A Retrospective Case Study in Epileptic Encephalopathies.

Authors:  Dan Sun; Yan Liu; Wei Cai; Jiehui Ma; Kun Ni; Ming Chen; Cheng Wang; Yongchu Liu; Yuanyuan Zhu; Zhisheng Liu; Feng Zhu
Journal:  Front Pediatr       Date:  2021-05-13       Impact factor: 3.418

4.  SRD5A3-CDG: Emerging Phenotypic Features of an Ultrarare CDG Subtype.

Authors:  Nazreen Kamarus Jaman; Preeya Rehsi; Robert H Henderson; Ulrike Löbel; Kshitij Mankad; Stephanie Grunewald
Journal:  Front Genet       Date:  2021-12-01       Impact factor: 4.599

5.  Identification of a case of SRD5A3-congenital disorder of glycosylation (CDG1Q) by exome sequencing.

Authors:  Neerja Gupta; Gaurav Verma; Madhulika Kabra; Sunita Bijarnia-Mahay; Aparna Ganapathy
Journal:  Indian J Med Res       Date:  2018-04       Impact factor: 2.375
  5 in total

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