Literature DB >> 32655146

ALG3-CDG: lethal phenotype and novel variants in Chinese siblings.

Yue Bian1,2, Chong Qiao1,2, ShuGuang Zheng3, Hao Qiu4, Huan Li1, ZhiTao Zhang1, ShaoWei Yin1, HongKun Jiang5, Jesse Li-Ling6, CaiXia Liu1,2, Yuan Lyu7,8.   

Abstract

Congenital disorders of glycosylation (CDG) are a group of genetic, mostly multisystem disorders, which often involve the central nervous system. ALG3-CDG is one the some 130 known CDG. Here we report two siblings with a severe phenotype and intrauterine death. Whole-exome sequencing revealed two novel variants in ALG3: NM_005787.6:c.512G>T (p.Arg171Leu) inherited from the mother and NM_005787.6:c.511C>T (p.Arg171Trp) inherited from the father.

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Year:  2020        PMID： 32655146      PMCID： PMC7605439          DOI： 10.1038/s10038-020-0798-7

Source DB:  PubMed          Journal:  J Hum Genet        ISSN： 1434-5161            Impact factor:   3.172


  14 in total

1.  ALG3-CDG (CDG-Id): clinical, biochemical and molecular findings in two siblings.

Authors:  Suzi Riess; Dinah Susan Reddihough; Katherine Brooke Howell; Charuta Dagia; Jaak Jaeken; Gert Matthijs; Joy Yaplito-Lee
Journal:  Mol Genet Metab       Date:  2013-06-07       Impact factor: 4.797

Review 2.  Congenital disorders of glycosylation.

Authors:  Irene J Chang; Miao He; Christina T Lam
Journal:  Ann Transl Med       Date:  2018-12

3.  Congenital disorder of glycosylation type Id: clinical phenotype, molecular analysis, prenatal diagnosis, and glycosylation of fetal proteins.

Authors:  Jonas Denecke; Christian Kranz; Juergen Ch von Kleist-Retzow; Kristin Bosse; Peter Herkenrath; Otfried Debus; Erik Harms; Thorsten Marquardt
Journal:  Pediatr Res       Date:  2005-07-08       Impact factor: 3.756

4.  Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase.

Authors:  C Körner; R Knauer; U Stephani; T Marquardt; L Lehle; K von Figura
Journal:  EMBO J       Date:  1999-12-01       Impact factor: 11.598

5.  Congenital disorder of glycosylation id presenting with hyperinsulinemic hypoglycemia and islet cell hyperplasia.

Authors:  Liangwu Sun; Erik A Eklund; Wendy K Chung; Chao Wang; Jason Cohen; Hudson H Freeze
Journal:  J Clin Endocrinol Metab       Date:  2005-04-19       Impact factor: 5.958

6.  CDG-Id caused by homozygosity for an ALG3 mutation due to segmental maternal isodisomy UPD3(q21.3-qter).

Authors:  E Schollen; S Grünewald; L Keldermans; B Albrecht; C Körner; G Matthijs
Journal:  Eur J Med Genet       Date:  2005-02-17       Impact factor: 2.708

7.  Congenital disorders of glycosylation: The Saudi experience.

Authors:  Sarah Alsubhi; Amal Alhashem; Eissa Faqeih; Majid Alfadhel; Abdullah Alfaifi; Waleed Altuwaijri; Saud Alsahli; Hesham Aldhalaan; Fowzan S Alkuraya; Khalid Hundallah; Adel Mahmoud; Ali Alasmari; Fuad Al Mutairi; Hanem Abduraouf; Layan AlRasheed; Saad Alshahwan; Brahim Tabarki
Journal:  Am J Med Genet A       Date:  2017-07-25       Impact factor: 2.802

8.  An activated 5' cryptic splice site in the human ALG3 gene generates a premature termination codon insensitive to nonsense-mediated mRNA decay in a new case of congenital disorder of glycosylation type Id (CDG-Id).

Authors:  Jonas Denecke; Christian Kranz; Dirk Kemming; Hans-Georg Koch; Thorsten Marquardt
Journal:  Hum Mutat       Date:  2004-05       Impact factor: 4.878

9.  Carbohydrate-deficient glycoprotein syndrome--a fourth subtype.

Authors:  H Stibler; U Stephani; U Kutsch
Journal:  Neuropediatrics       Date:  1995-10       Impact factor: 1.947

10.  CDG-Id in two siblings with partially different phenotypes.

Authors:  Christian Kranz; Liangwu Sun; Erik A Eklund; Donna Krasnewich; Janet R Casey; Hudson H Freeze
Journal:  Am J Med Genet A       Date:  2007-07-01       Impact factor: 2.802
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  3 in total

1.  Expression of ALG3 in Hepatocellular Carcinoma and Its Clinical Implication.

Authors:  Zhen Zhao; Zehao Zheng; Jianfeng Huang; Jianxi Wang; Tianyi Peng; Ye Lin; Zhixiang Jian
Journal:  Front Mol Biosci       Date:  2022-06-15

2.  Expanding the phenotype, genotype and biochemical knowledge of ALG3-CDG.

Authors:  Hind Alsharhan; Bobby G Ng; Earnest James Paul Daniel; Jennifer Friedman; Eniko K Pivnick; Amal Al-Hashem; Eissa Ali Faqeih; Pengfei Liu; Nicole M Engelhardt; Kierstin N Keller; Jie Chen; Pamela A Mazzeo; Jill A Rosenfeld; Michael J Bamshad; Deborah A Nickerson; Kimiyo M Raymond; Hudson H Freeze; Miao He; Andrew C Edmondson; Christina Lam
Journal:  J Inherit Metab Dis       Date:  2021-03-01       Impact factor: 4.750

Review 3.  ALG3-CDG: a patient with novel variants and review of the genetic and ophthalmic findings.

Authors:  Martina Farolfi; Anna Cechova; Nina Ondruskova; Jana Zidkova; Bohdan Kousal; Hana Hansikova; Tomas Honzik; Petra Liskova
Journal:  BMC Ophthalmol       Date:  2021-06-05       Impact factor: 2.209
  3 in total

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