Congenital disorder of glycosylation type 1a: Three siblings with a mild neurological phenotype

Coman, David; McGill, James; Macdonald, Ross A.; Morris, Danna K.; Klingberg, Sandra; Jaeken, Jaak; Appleton, D B

doi:10.1016/j.jocn.2006.04.008

Cited by 34 publications

(34 citation statements)

References 27 publications

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“…For the most frequent CDG-I subtype, PMM2-CDG (formerly CDG-Ia), several adolescent patients have been reported presenting with cerebellar hypoplasia. 23,24 In addition, DPM3-CDG has been reported in a 27-year-old female with muscle dystrophy and dilated cardiomyopathy, 25 while DOLK-CDG has recently been associated with non-syndromic dilated cardiomyopathy in patients between 5and 18 years of age. 26 Moreover, TUSC3-CDG and MAGT1-CDG are implicated in non-syndromic ID patients, with the age range of 25-62 years.…”

Section: Discussionmentioning

confidence: 99%

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

et al. 2012

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Congenital disorders of glycosylation (CDG) are a large group of recessive multisystem disorders caused by impaired protein or lipid glycosylation. The CDG-I subgroup is characterized by protein N-glycosylation defects originating in the endoplasmic reticulum. The genetic defect is known for 17 different CDG-I subtypes. Patients in the few reported DPAGT1-CDG families exhibit severe intellectual disability (ID), epilepsy, microcephaly, severe hypotonia, facial dysmorphism and structural brain anomalies. In this study, we report a non-consanguineous family with two affected adults presenting with a relatively mild phenotype consisting of moderate ID, epilepsy, hypotonia, aggressive behavior and balance problems. Exome sequencing revealed a compound heterozygous missense mutation, c.85A4T (p.I29F) and c.503T4C (p.L168P), in the DPAGT1 gene. The affected amino acids are located in the first and fifth transmembrane domains of the protein. Isoelectric focusing and high-resolution mass spectrometry analyses of serum transferrin revealed glycosylation profiles that are consistent with a CDG-I defect. Our results show that the clinical spectrum of DPAGT1-CDG is much broader than appreciated so far.

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Section: Discussionmentioning

confidence: 99%

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

et al. 2012

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“…In that case, AOA2 should be differentiated from other ataxias with primary hypogonadism, like some cases of ataxia-telangiectasia, 19 DeSanctis-Cacchione syndrome, 8 and other diseases. 2,10 Primary ovarian failure has an extraneural origin and so does the elevation of serum AFP, which may be caused by dedifferentiation of the hepatic cells. 16,25 These features indicate that AOA2 is a multisystemic disease.…”

Section: Discussionmentioning

confidence: 99%

Sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2

et al. 2009

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Two siblings with ataxia with oculomotor apraxia type 2 (AOA2) exhibited electrophysiological findings suggestive of a sensorimotor neuronopathy, and primary ovarian failure was detected in one of them. Genetic analysis disclosed a novel, homozygous frameshift mutation in the senataxin gene, 2755_2756delGT, responsible for a premature stop codon at position 2760. It is suggested that a neuronopathy might cause the neuromuscular disturbance in AOA2, and that ovarian failure should be looked for in female patients with the disease.

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“…In 2001, we reported the clinical and laboratory findings of 26 patients with PMM2-CDG and proposed a classification into an isolated neurological form and a neuro-visceral form strongly related with clinical severity. However, since 2001, most publications showed more complex ties between neurological and visceral symptoms, notably patients with mild ID despite significant multiorgan abnormalities 15. Moreover, numerous patients with PMM2-CDG have been described surviving into adulthood 6 16.…”

Section: Introductionmentioning

confidence: 99%

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

et al. 2017

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Congenital disorder of glycosylation type 1a: Three siblings with a mild neurological phenotype

Cited by 34 publications

References 27 publications

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

A compound heterozygous mutation in DPAGT1 results in a congenital disorder of glycosylation with a relatively mild phenotype

Sensorimotor neuronopathy in ataxia with oculomotor apraxia type 2

Clinical, laboratory and molecular findings and long-term follow-up data in 96 French patients with PMM2-CDG (phosphomannomutase 2-congenital disorder of glycosylation) and review of the literature

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