Research & Literature

Expanding the clinical and molecular characteristics of PIGT-CDG, a disorder of glycosylphosphatidylinositol anchors.

Lam C, Golas GA, Davids M, et al.

Molecular genetics and metabolism 2015; (115(2-3)):128-140 doi:10.1016/j.ymgme.2015.04.007.

A PIGN mutation responsible for multiple congenital anomalies-hypotonia-seizures syndrome 1 (MCAHS1) in an Israeli-Arab family.

Khayat M, Tilghman JM, Chervinsky I, et al.

American journal of medical genetics. Part A 2016; (170A(1)):176-82 doi:10.1002/ajmg.a.37375.

Effects of GPI-anchored TNAP on the dynamic structure of model membranes.

Garcia AF, Simão AM, Bolean M, et al.

Physical chemistry chemical physics : PCCP 2015; (17(39)):26295-301 doi:10.1039/c5cp02377g.

A recurrent germline mutation in the PIGA gene causes Simpson-Golabi-Behmel syndrome type 2.

Fauth C, Steindl K, Toutain A, et al.

American journal of medical genetics. Part A 2016; (170A(2)):392-402 doi:10.1002/ajmg.a.37452.

Novel PIGT Variant in Two Brothers: Expansion of the Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 Phenotype.

Skauli N, Wallace S, Chiang SC, et al.

Genes 2016; (7(12)).

Analysis of exome data for 4293 trios suggests GPI-anchor biogenesis defects are a rare cause of developmental disorders.

Pagnamenta AT, Murakami Y, Taylor JM, et al.

European journal of human genetics : EJHG 2017; (25(6)):669-679 doi:10.1038/ejhg.2017.32.

[Hypophosphatasia: Clinical manifestations, diagnostic recommendations and therapeutic options].

Martos-Moreno GA, Calzada J, Couce ML, Argente J

Anales de pediatria 2018; (88(6)):356.e1-356.e11 doi:10.1016/j.anpedi.2017.06.004.

Epileptic apnea in a patient with inherited glycosylphosphatidylinositol anchor deficiency and PIGT mutations.

Kohashi K, Ishiyama A, Yuasa S, et al.

Brain & development 2018; (40(1)):53-57 doi:10.1016/j.braindev.2017.06.005.

Silent aspiration: Who is at risk?

Velayutham P, Irace AL, Kawai K, et al.

The Laryngoscope 2018; (128(8)):1952-1957 doi:10.1002/lary.27070.

CCDC115-CDG: A new rare and misleading inherited cause of liver disease.

Girard M, Poujois A, Fabre M, et al.

Molecular genetics and metabolism 2018; (124(3)):228-235 doi:10.1016/j.ymgme.2018.05.002.

Mutations in PIGS, Encoding a GPI Transamidase, Cause a Neurological Syndrome Ranging from Fetal Akinesia to Epileptic Encephalopathy.

Nguyen TTM, Murakami Y, Wigby KM, et al.

American journal of human genetics 2018; (103(4)):602-611 doi:10.1016/j.ajhg.2018.08.014.

The challenge of CDG diagnosis.

Francisco R, Marques-da-Silva D, Brasil S, et al.

Molecular genetics and metabolism 2019; (126(1)):1-5 doi:10.1016/j.ymgme.2018.11.003.

Disorders affecting vitamin B6 metabolism.

Wilson MP, Plecko B, Mills PB, Clayton PT

Journal of inherited metabolic disease 2019; (42(4)):629-646 doi:10.1002/jimd.12060.

Case report of a child bearing a novel deleterious splicing variant in PIGT.

Mason S, Castilla-Vallmanya L, James C, et al.

Medicine 2019; (98(8)):e14524 doi:10.1097/MD.0000000000014524.

Stability of the transamidase complex catalyzing GPI anchoring of proteins.

Kawaguchi K, Sato T, Kondo S, et al.

Biochemical and biophysical research communications 2019; (512(3)):584-590 doi:10.1016/j.bbrc.2019.03.103.

PIGT-CDG, a disorder of the glycosylphosphatidylinositol anchor: description of 13 novel patients and expansion of the clinical characteristics.

Bayat A, Knaus A, Juul AW, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2019; (21(10)):2216-2223 doi:10.1038/s41436-019-0512-3.

Mutations in PIGU Impair the Function of the GPI Transamidase Complex, Causing Severe Intellectual Disability, Epilepsy, and Brain Anomalies.

Knaus A, Kortüm F, Kleefstra T, et al.

American journal of human genetics 2019; (105(2)):395-402 doi:10.1016/j.ajhg.2019.06.009.

Diagnosis and Management of Pediatric Dysphagia: A Review.

Lawlor CM, Choi S

JAMA otolaryngology-- head & neck surgery 2020; (146(2)):183-191 doi:10.1001/jamaoto.2019.3622.

Analyzing clinical and genetic characteristics of a cohort with multiple congenital anomalies-hypotonia-seizures syndrome (MCAHS).

Jiao X, Xue J, Gong P, et al.

Orphanet journal of rare diseases 2020; (15(1)):78 doi:10.1186/s13023-020-01365-0.

PIGH deficiency can be associated with severe neurodevelopmental and skeletal manifestations.

Tremblay-Laganière C, Kaiyrzhanov R, Maroofian R, et al.

Clinical genetics 2021; (99(2)):313-317 doi:10.1111/cge.13877.

Experiences of parents with children with congenital disorders of glycosylation: What can we learn from them?

Cardão C, Barros L, Francisco R, et al.

Disability and health journal 2021; (14(3)):101065 doi:10.1016/j.dhjo.2021.101065.

Bilateral anterior segment dysgenesis and peripheral avascular retina with tractional retinal detachment in an infant with multiple congenital anomalies-hypotony-seizures syndrome 3.

Wu F, Goldenberg PC, Mukai S

Ophthalmic genetics 2021; (42(3)):334-337 doi:10.1080/13816810.2021.1888133.

Vitamin B6 deficiency with normal plasma levels of pyridoxal 5'-phosphate in perinatal hypophosphatasia.

Whyte MP, May JD, McAlister WH, et al.

Bone 2021; (150()):116007 doi:10.1016/j.bone.2021.116007.

Deep-Phenotyping the Less Severe Spectrum of PIGT Deficiency and Linking the Gene to Myoclonic Atonic Seizures.

Bayat A, Pendziwiat M, Obersztyn E, et al.

Frontiers in genetics 2021; (12()):663643 doi:10.3389/fgene.2021.663643.

Compound Heterozygous PIGT Mutations in Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome: First Case in Korea and Characterization by Persistent Hypophosphatasia.

Hur YJ, Lee BL, Chung WY, et al.

Annals of clinical and laboratory science 2021; (51(3)):422-425.

Exome and genome sequencing for pediatric patients with congenital anomalies or intellectual disability: an evidence-based clinical guideline of the American College of Medical Genetics and Genomics (ACMG).

Manickam K, McClain MR, Demmer LA, et al.

Genetics in medicine : official journal of the American College of Medical Genetics 2021; (23(11)):2029-2037 doi:10.1038/s41436-021-01242-6.

Functional Analysis of the GPI Transamidase Complex by Screening for Amino Acid Mutations in Each Subunit.

Liu SS, Jin F, Liu YS, et al.

Molecules (Basel, Switzerland) 2021; (26(18)) doi:10.3390/molecules26185462.

Expanding the Phenotypic Spectrum of GPI Anchoring Deficiency Due to Biallelic Variants in GPAA1.

Castle AMR, Salian S, Bassan H, et al.

Neurology. Genetics 2021; (7(6)):e631 doi:10.1212/NXG.0000000000000631.

Structure of human glycosylphosphatidylinositol transamidase.

Zhang H, Su J, Li B, et al.

Nature structural & molecular biology 2022; (29(3)):203-209 doi:10.1038/s41594-022-00726-6.

Neurogenic Dysphagia and Nutrition in Disorder of Consciousness: An Overview with Practical Advices on an "Old" but Still Actual Clinical Problem.

Raciti L, Raciti G, Pulejo G, et al.

Medicines (Basel, Switzerland) 2022; (9(2)) doi:10.3390/medicines9020016.

Current challenges and opportunities in the care of patients with fibrodysplasia ossificans progressiva (FOP): an international, multi-stakeholder perspective.

Pignolo RJ, Bedford-Gay C, Cali A, et al.

Orphanet journal of rare diseases 2022; (17(1)):168 doi:10.1186/s13023-022-02224-w.

Children with a rare congenital genetic disorder: a systematic review of parent experiences.

von der Lippe C, Neteland I, Feragen KB

Orphanet journal of rare diseases 2022; (17(1)):375 doi:10.1186/s13023-022-02525-0.

Carer burden in rare inherited diseases: a literature review and conceptual model.

Sandilands K, Williams A, Rylands AJ

Orphanet journal of rare diseases 2022; (17(1)):428 doi:10.1186/s13023-022-02561-w.

Hyperphosphatasia with mental retardation syndrome 3: Cerebrospinal fluid abnormalities and correction with pyridoxine and Folinic acid.

Messina M, Manea E, Cullup T, et al.

JIMD reports 2023; (64(1)):42-52 doi:10.1002/jmd2.12347.

Genetic and metabolic investigations for neurodevelopmental disorders: position statement of the Canadian College of Medical Geneticists (CCMG).

Carter MT, Srour M, Au PB, et al.

Journal of medical genetics 2023; (60(6)):523-532 doi:10.1136/jmg-2022-108962.

Case report: Functional analysis of the p.Arg507Trp variant of the PIGT gene supporting the moderate epilepsy phenotype of mutations in the C-terminal region.

Ben Ayed I, Jallouli O, Murakami Y, et al.

Frontiers in neurology 2023; (14()):1092887 doi:10.3389/fneur.2023.1092887.

PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives.

Saracino A, Totaro M, Politano D, et al.

Neuropediatrics 2024; (55(2)):129-134 doi:10.1055/s-0044-1779613.

Resilience in patients and family caregivers living with congenital disorders of glycosylation (CDG): a quantitative study using the brief resilience coping scale (BRCS).

Poejo J, Gomes AI, Granjo P, Dos Reis Ferreira V

Orphanet journal of rare diseases 2024; (19(1)):98 doi:10.1186/s13023-024-03043-x.

Spectrum of Multiple Congenital Anomalies-Hypotonia-Seizures Syndrome 3 (MCAHS3) Due to Phosphatidylinositol Glycan Biosynthesis Class T (PIGT) Gene Mutations: A Narrative Review.

Ranjan A, Alam MS, Kumar V, et al.

Cureus 2024; (16(5)):e60737 doi:10.7759/cureus.60737.

Frontiers in congenital disorders of glycosylation consortium, a cross-sectional study report at year 5 of 280 individuals in the natural history cohort.

Lam C, Scaglia F, Berry GT, et al.

Molecular genetics and metabolism 2024; (142(4)):108509 doi:10.1016/j.ymgme.2024.108509.

Structure and Function of the Glycosylphosphatidylinositol Transamidase, a Transmembrane Complex Catalyzing GPI Anchoring of Proteins.

Li D

Sub-cellular biochemistry 2024; (104()):425-458 doi:10.1007/978-3-031-58843-3_16.

Short-term effectiveness and side effects of ketogenic diet for drug-resistant epilepsy in children with genetic epilepsy syndromes.

Muthaffar OY, Alyazidi AS, Alsowat D, et al.

Frontiers in neurology 2024; (15()):1484752 doi:10.3389/fneur.2024.1484752.

A Novel Homozygous Missense Variant of PIGT Related to Multiple Congenital Anomalies-Hypotonia Seizures Syndrome 3 with Elevated of Serum ALP Level in a Thai Newborn Patient.

Klangjorhor J, Wiwattanadittakul N, Jaimalai T, et al.

International journal of molecular sciences 2025; (26(6)) doi:10.3390/ijms26062790.

Novel PGM1 Mutation in Congenital Disorder of Glycosylation Type 1T: A Case Report of Liver Failure and Myopathy.

Al-Ahmari AA

The American journal of case reports 2025; (26()):e948797 doi:10.12659/AJCR.948797.

Diagnostic and clinical utility of exome sequencing and chromosomal microarray in children with GDD/iD: a meta-analysis.

Tengsujaritkul M, Louthrenoo O, Likhitweerawong N, et al.

Annals of medicine 2026; (58(1)):2609424 doi:10.1080/07853890.2025.2609424.

Genetic testing and analysis of 1024 children with global developmental delay or intellectual disability: a single-center cohort study.

Wang B, Ji X, Wu F, et al.

European journal of pediatrics 2026; (185(7)).

Multisystemic Clues and Diagnostic Gaps: A Comparative Analysis of Pediatric Congenital Disorders of Glycosylation Patients.

Gokalp S, Akar HT, Aktasoglu EO, et al.

Pediatric neurology 2026; (185()):89-94 doi:10.1016/j.pediatrneurol.2026.09.015.

Understanding the Experiences and Needs of Parents With Children With Epidermolysis Bullosa. A Qualitative Study to Inform the Development of a Self-help Toolkit.

Hughes O, Martin F, Thompson AR

The British journal of dermatology 2026; doi:10.1093/bjd/ljag477.