Neonatal type IV glycogen storage disease associated with “null” mutations in glycogen branching enzyme 1

Janecke, Andreas R.; Dertinger, Susanne; Ketelsen, Uwe‐Peter; Bereuter, Lothar; Simma, Burkhard; Müller, Thomas; Vogel, Wolfgang; Offner, Felix

doi:10.1016/j.jpeds.2004.07.024

Cited by 33 publications

(33 citation statements)

References 18 publications

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“…Uro-Coste et al [1996] reported on a neonatal case with hypotonia, arthrogryposis, and respiratory distress leading to death at the age of 1 month. Janecke et al [2004] reported on a case of hydramnios requiring decompressing amniocentesis. At birth, the patient had severe weakness, respiratory insufficiency, and a progressive cardiopathy leading to death at the age of 2 months.…”

Section: Discussionmentioning

confidence: 99%

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Fetal type IV glycogen storage disease: Clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family

L’Herminé-Coulomb

Beuzen

Bouvier

et al. 2005

American J of Med Genetics Pt A

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We report on a family of three consecutive fetuses affected by type IV glycogen storage disease (GSD IV). In all cases, cervical cystic hygroma was observed on the 12-week-ultrasound examination. During the second trimester, fetal hydrops developed in the first pregnancy whereas fetal akinesia appeared in the second pregnancy. The diagnosis was suggested by microscopic examination of fetal tissues showing characteristic inclusions exclusively in striated fibers, then confirmed by enzymatic studies on frozen muscle. Antenatal diagnosis was performed on the third and fourth pregnancies: cervical cystic hygroma and low glycogen branching enzyme (GBE) activity on chorionic villi sample (CVS) were detected in the third pregnancy whereas ultrasound findings were normal and GBE activity within normal range on CVS in the fourth pregnancy. Molecular analysis showed that the mother was heterozygous for a c.1471G > C mutation in exon 12, leading to the replacement of an alanine by a tyrosine at codon 491 (p.A491T); the father was heterozygous for a c.895G > T mutation in exon 7, leading to the creation of a stop codon at position 299 (p.G299X). GSD IV has to be considered in a context of cervical cystic hygroma with normal karyotype, particularly when second trimester hydrops or akinesia develop. Enzymatic analysis of GBE must be performed on CVS or amniotic cells to confirm the diagnosis. Characteristic intracellular inclusions are specific to the disease and should be recognized, even in macerated tissues after fetal death. Genetic analysis of the GBE gene may help to shed some light on the puzzling diversity of GSD IV phenotypes.

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Section: Discussionmentioning

confidence: 99%

“…It has a coding sequence of 2, 106 bp that encode a protein of 702 amino-acids and is highly conserved between species. GBE1 gene studies have shown different genetic defects in these fetal and infantile forms: deletions, insertions, nonsense, missense, and splice-site mutations, [Bao et al, 1996;Bruno et al, 2004;Janecke et al, 2004].…”

Section: Introductionmentioning

confidence: 99%

Fetal type IV glycogen storage disease: Clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family

L’Herminé-Coulomb

Beuzen

Bouvier

et al. 2005

American J of Med Genetics Pt A

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“…1,4,6,7,12,[16][17][18] As GSD IV is an autosomal recessive disorder, we suspect that our patient has a second unidentifiable mutation in the GBE1 gene. Uniparental disomy, consanguinity and a deletion could be considered as a likely explanation.…”

Section: Patient Summarymentioning

confidence: 89%

“…Two cases had cardiomyopathy as a significant cardiac finding. 7,12 Dysmorphic features were also reported following birth in 21% of the cases (Table 1), including a cleft palate in one case and features resembling Crouzon syndrome in another case. 1,13 All 29 reported patients with neuromuscular neonatal GSD IV died, with the longest living patient surviving to 28 months.…”

Section: Patient Summarymentioning

confidence: 96%

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Neonatal presentation of lethal neuromuscular glycogen storage disease type IV

et al. 2012

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Arthrogryposis multiplex with deafness, inguinal hernias, and early death: A family report of a probably autosomal recessive trait

Tiemann

Bührer

Burwinkel

et al. 2005

American J of Med Genetics Pt A

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We report on three male newborn infants of a highly inbred Lebanese family presenting with a characteristic phenotype: arthrogryposis multiplex, deafness, large inguinal hernia, hiccup-like diaphragmatic contractions, and inability to suck, requiring nasogastric gavage feeding. All three boys died from respiratory failure during the first 3 months of life. Intra vitam or post mortem examinations revealed myopathic changes and elevated glycogen content of muscle tissue. This new syndrome is probably transmitted in an autosomal recessive mode, although X-linked inheritance cannot be excluded.

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Neonatal type IV glycogen storage disease associated with “null” mutations in glycogen branching enzyme 1

Cited by 33 publications

References 18 publications

Fetal type IV glycogen storage disease: Clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family

Fetal type IV glycogen storage disease: Clinical, enzymatic, and genetic data of a pure muscular form with variable and early antenatal manifestations in the same family

Neonatal presentation of lethal neuromuscular glycogen storage disease type IV

Arthrogryposis multiplex with deafness, inguinal hernias, and early death: A family report of a probably autosomal recessive trait

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