Acrodysostosis: Report of a 13‐year‐old boy with review of literature and metacarphphalangeal pattern profile analysis

Butler, Merlin G.; Rames, Laura J.; Wadlington, William B.

doi:10.1002/ajmg.1320300416

Cited by 32 publications

(23 citation statements)

References 19 publications

(5 reference statements)

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“…An autosomal dominant inheritance pattern has been seen in only 14% of reported cases. Advanced paternal age has been noted in some affected individuals, supporting autosomal dominant inheritance [2,6].…”

Section: Discussionmentioning

confidence: 84%

Adult case of acrodysostosis with severe neurologic involvement

Sezer¹,

Sütbeyaz²,

Köseoğlu³

et al. 2009

BMR

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Section: Discussionmentioning

confidence: 84%

Adult case of acrodysostosis with severe neurologic involvement

Sezer¹,

Sütbeyaz²,

Köseoğlu³

et al. 2009

BMR

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“…Advanced skeletal maturation, spinal stenosis, obesity, mental deficiency, notably delayed speech and impaired hearing are also frequently observed (Additional file 1: Table S4) [44-51]. Although Maroteaux & Malamut defined this pathology as a new syndrome distinct from PHP/AHO in 1968 [47], these two entities have been confused many times because they share many features [44].…”

Section: Brachydactyly Type E As Part Of Syndromesmentioning

confidence: 99%

Brachydactyly E: isolated or as a feature of a syndrome

Pereda

Garin

García-Barcina

et al. 2013

Orphanet J Rare Dis

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Brachydactyly (BD) refers to the shortening of the hands, feet or both. There are different types of BD; among them, type E (BDE) is a rare type that can present as an isolated feature or as part of more complex syndromes, such as: pseudohypopthyroidism (PHP), hypertension with BD or Bilginturan BD (HTNB), BD with mental retardation (BDMR) or BDE with short stature, PTHLH type. Each syndrome has characteristic patterns of skeletal involvement. However, brachydactyly is not a constant feature and shows a high degree of phenotypic variability. In addition, there are other syndromes that can be misdiagnosed as brachydactyly type E, some of which will also be discussed. The objective of this review is to describe some of the syndromes in which BDE is present, focusing on clinical, biochemical and genetic characteristics as features of differential diagnoses, with the aim of establishing an algorithm for their differential diagnosis. As in our experience many of these patients are recruited at Endocrinology and/or Pediatric Endocrinology Services due to their short stature, we have focused the algorithm in those steps that could mainly help these professionals.

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“…Most ACRDY2 mutations are spontaneous, but one instance of inheritance from a parent to 2 offspring has been reported [64]. Intelligence is impaired in 90 % of affected children with intelligence quotients ranging from 50 to 80 [66]. Without exception, the ACRDY2 mutations are missense mutations.…”

Section: Genetic Validation Of the Role Of Pde4d In Human Cognitionmentioning

confidence: 99%

Phosphodiesterase-4 (PDE4) Molecular Pharmacology and Alzheimer's Disease

2015

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Between 20% and 25% of patients diagnosed with Alzheimer's disease (AD) do not have amyloid burden as assessed by positron emission tomography imaging. Thus, there is a need for nonamyloid-directed therapies for AD, especially for those patients with non-amyloid AD. The family of phosphodiesterase-4 (PDE4) enzymes are underexploited therapeutic targets for central nervous system indications. While the PDE4A, B, and D subtypes are expressed in brain, the strict amino acid sequence conservation of the active site across the four subtypes of PDE4 has made it difficult to discover subtype inhibitors. The recent elucidation of the structure of the PDE4 N-and C-terminal regulatory domains now makes it possible to design subtype-selective, negative allosteric modulators (PDE4-NAMs). These act through closing the N-terminal UCR2 or C-terminal CR3 regulatory domains, and thereby inhibit the enzyme by blocking access of cyclic adenosine monophosphate (cAMP) to the active site. PDE4B-NAMs have the potential to reduce neuroinflammation by dampening microglia cytokine production triggered by brain amyloid, while PDE4D-NAMs have potent cognitive benefit by augmenting signaling through the cAMP/protein kinase A/ cAMP response element-binding protein (CREB) pathway for memory consolidation. The importance of PDE4D for human cognition is underscored by the recent discovery of PDE4D mutations in acrodysostosis (ACRDY2: MIM 600129), an ultra rare disorder associated with intellectual disability. Thus, the family of PDE4 enzymes provides rich opportunities for the development of mechanistically novel drugs to treat neuroinflammation or the cognitive deficits in AD.

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Acrodysostosis: Report of a 13‐year‐old boy with review of literature and metacarphphalangeal pattern profile analysis

Cited by 32 publications

References 19 publications

Adult case of acrodysostosis with severe neurologic involvement

Adult case of acrodysostosis with severe neurologic involvement

Brachydactyly E: isolated or as a feature of a syndrome

Phosphodiesterase-4 (PDE4) Molecular Pharmacology and Alzheimer's Disease

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