Failure of tooth eruption and brachydactyly in pseudohypoparathyroidism are not related to plasma parathyroid hormone-related protein levels

Reis, Mariana Tenorio Antunes; Matias, Diogo Toledo; Faria, Maria Estela Justamante de; Martin, Regina Matsunaga

doi:10.1016/j.bone.2016.02.002

Cited by 22 publications

(26 citation statements)

References 16 publications

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“…By contrast, patients with PHP1B show abnormal patterns of methylation in the DMRs associated with the GNAS complex locus 45,47,[86][87][88]101,143,[151][152][153][154] . A methylation defect can be classified as partial or complete and can affect one or multiple DMRs within 20q13 (reF.…”

Section: Molecular Diagnosismentioning

confidence: 92%

“…GNAS shows differential methylation at four distinct DMRs: one paternally methylated-DMR (GNAS-NESP:TSS-DMR) and three maternally methylated-DMRs (GNAS-AS1:TSS-DMR, GNAS-XL:Ex1-DMR and GNAS A/B:TSS-DMR, according to the current nomenclature 156 ). Loss of methylation at GNAS A/B:TSS-DMR is detected in all patients with PHP1B 45,47,[86][87][88]101,143,[151][152][153][154] .…”

Section: Molecular Diagnosismentioning

confidence: 97%

“…Brachydactyly develops over time and might not be evident in early life, except in patients with acrodysostosis 6,35,86 . The frequency and severity of brachydactyly vary among the different disorders: 70-80% in PHP1A 51 , 15-33% in PHP1B 46,51,70,[87][88][89][90][91][92][93] and all patients with acrodysostosis 5,6,14,15,20,[62][63][64][94][95][96] (Table 1). However, brachydactyly is not specific to PHP and related disorders and can be found in patients with, for example, tricho-rhino-phalangeal syndrome, brachydactyly mental retardation syndrome or Turner syndrome (Table 2).…”

Section: The Definition Of Pth Resistance Is As Followsmentioning

confidence: 99%

“…In brief, PHP1A is caused by inactivating variants on the maternal allele of the GNAS gene within exons 1-13 (referring sequences NG_016194.1/NM_001077488.1 and LRG_1051), including both point mutations and rare gene rearrangements 16,23,27,41,45,86,88,97,112,122,[143][144][145][146][147][148] ( Supplementary Fig. 1b).…”

Section: Molecular Diagnosismentioning

confidence: 99%

“…If a female carries the STX16 or NESP/AS deletion, each of her descendants has a 50% risk of inheriting the genetic defect, and if the descendant inherits the defect, he or she will present with a methylation defect affecting only GNAS A/B:TSS-DMR or the complete GNAS locus (depending on the inherited deletion) 18 . In both cases, the descendant will develop PHP1B 45,47,[86][87][88]101,143,[151][152][153][154] . Although translocations of chromosome 20 resulting in UPD(20)pat are very rare, parental karyotyping is recommended to establish the risk of recurrence.…”

Section: Genetic Counsellingmentioning

confidence: 99%

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Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement

Mantovani¹,

Lecumberri²,

Baştepe³

et al. 2018

EJEA

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Pseu do hy popar ath yroi dism (PHP) and related disorders are associated with a spectrum of abnormal physical characteristics as well as neurocognitive and endocrine abnormalities that are caused primarily by molecular defects that impair hormonal signalling via receptors that are coupled, through the α-subunit of the stimulatory G protein (G s α), to activation of adenylyl cyclase (Fig. 1). 6,7,20,48 * Abstract | This Consensus Statement covers recommendations for the diagnosis and management of patients with pseu do hy popar ath yroi dism (PHP) and related disorders, which comprise metabolic disorders characterized by physical findings that variably include short bones, short stature, a stocky build, early-onset obesity and ectopic ossifications, as well as endocrine defects that often include resistance to parathyroid hormone (PTH) and TSH. The presentation and severity of PHP and its related disorders vary between affected individuals with considerable clinical and molecular overlap between the different types. A specific diagnosis is often delayed owing to lack of recognition of the syndrome and associated features. The participants in this Consensus Statement agreed that the diagnosis of PHP should be based on major criteria, including resistance to PTH, ectopic ossifications, brachydactyly and early-onset obesity. The clinical and laboratory diagnosis should be confirmed by a molecular genetic analysis. Patients should be screened at diagnosis and during follow-up for specific features, such as PTH resistance, TSH resistance, growth hormone deficiency , hypogonadism, skeletal deformities, oral health, weight gain, glucose intolerance or type 2 diabetes mellitus, and hypertension, as well as subcutaneous and/or deeper ectopic ossifications and neurocognitive impairment. Overall, a coordinated and multidisciplinary approach from infancy through adulthood, including a transition programme, should help us to improve the care of patients affected by these disorders.

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Section: Molecular Diagnosismentioning

confidence: 92%

Section: Molecular Diagnosismentioning

confidence: 97%

Section: The Definition Of Pth Resistance Is As Followsmentioning

confidence: 99%

Section: Molecular Diagnosismentioning

confidence: 99%

Section: Genetic Counsellingmentioning

confidence: 99%

See 3 more Smart Citations

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement

Mantovani¹,

Lecumberri²,

Baştepe³

et al. 2018

EJEA

View full text Add to dashboard Cite

show abstract

Pseudohypoparathyroidism

Linglart¹,

Levine²,

Jüppner³

2018

Primer on the Metabolic Bone Diseases and Disorders of Mineral Metabolism

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Dental abnormalities in rare genetic bone diseases: Literature review

Iwata,

Sah,

Chen

et al. 2023

Clinical Anatomy

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Currently, over 500 rare genetic bone disorders are identified. These diseases are often accompanied by dental abnormalities, which are sometimes the first clue for an early diagnosis. However, not many dentists are sufficiently familiar with phenotypic abnormalities and treatment approaches when they encounter patients with rare diseases. Such patients often need dental treatment but have difficulties in finding a dentist who can treat them appropriately. Herein we focus on major dental phenotypes and summarize their potential causes and mechanisms, if known. We discuss representative diseases, dental treatments, and their effect on the oral health of patients and on oral health‐related quality of life. This review can serve as a starting point for dentists to contribute to early diagnosis and further investigate the best treatment options for patients with rare disorders, with the goal of optimizing treatment outcomes.

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Failure of tooth eruption and brachydactyly in pseudohypoparathyroidism are not related to plasma parathyroid hormone-related protein levels

Cited by 22 publications

References 16 publications

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement

Diagnosis and management of pseudohypoparathyroidism and related disorders: first international consensus statement

Pseudohypoparathyroidism

Dental abnormalities in rare genetic bone diseases: Literature review

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