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A rare case of acrodysostosis type 2 with PDE4D mutation in a young female: a case report.
Oxf Med Case Reports
January 2025
Nursing Department Communicable Diseases Center, Hammad Medical Corporation, Doha 3050, Qatar.
Acrodysostosis (ADO) is a rare form of peripheral dysostosis characterized by skeletal malformations, growth delays, short stature, and distinctive facial features caused by in part by underdeveloped (hypoplasia) of facial bones. Skeletal dysplasia is specific and includes disproportional short stature with short extremities and brachydactyly, multiple cone-shaped epiphyses, scoliosis or kyphosis with spinal stenosis, and advanced bone maturation. Herein, we are highlighting a case that presented with clinical features such as brachydactyly, delayed milestone, growth delay, muscle weakness and nasal hypoplasia.
View Article and Find Full Text PDF[Clinical and genetic characteristics analysis of two children with comorbidity of two rare genetic diseases].
Zhonghua Yi Xue Yi Chuan Xue Za Zhi
October 2025
Department of Pediatric Neurology, the Third Affiliated Hospital of Zhengzhou University, Zhengzhou, Henan 450052, China.
Objective: To explore the clinical and genetic characteristics of two children diagnosed with two rare genetic diseases simultaneously.
Methods: Two children with comorbidity of two genetic diseases due to dual genetic mutations diagnosed at the Third Affiliated Hospital of Zhengzhou University respectively in May 2022 and March 2023 were selected as the study subjects. Clinical and genetic data of the two children were retrospectively analyzed.
Heterodisomy in the locus is also a cause of pseudohypoparathyroidism type 1B (iPPSD3).
Front Endocrinol (Lausanne)
December 2024
Rare Disease Research Group, Molecular (Epi) Genetics Laboratory, Bioaraba Health Research Institute, Araba University Hospital, Vitoria-Gasteiz, Spain.
Objective: To identify the genetic cause underlying the methylation defect in a patient with clinical suspicion of PHP1B/iPPSD3.
Design: Imprinting is an epigenetic mechanism that allows the regulation of gene expression. The locus is one of the loci within the genome that is imprinted.
Recurrent small variants in NESP55/NESPAS associated with broad GNAS methylation defects and pseudohypoparathyroidism type 1B.
JCI Insight
December 2024
Department of Pediatrics, University of Pennsylvania Perelman School of Medicine, Philadelphia, Pennsylvania, USA.
Article Synopsis
- - Pseudohypoparathyroidism type 1B (PHP1B) is caused by epigenetic changes affecting the GNAS gene, leading to parathyroid hormone resistance, especially in kidney cells due to inhibited Gsα protein expression from the maternal allele.
- - Genetic defects in PHP1B patients include loss of methylation in specific regions and additional methylation issues in some, prompting researchers to identify the genetic basis for autosomal dominant PHP1B in families with complex GNAS methylation problems.
- - Genome sequencing highlighted small GNAS variants and a microdeletion in affected families that possibly alter AS transcript expression, leading to reduced NESP transcription, thus suggesting a mechanism behind PHP1B development.
Case report: Familial hypoparathyroidism with elevated parathyroid hormone due to an inactivating mutation.
Front Endocrinol (Lausanne)
October 2024
Department of Medicine, King Faisal Specialist Hospital & Research Centre, Riyadh, Saudi Arabia.
Article Synopsis
- This report investigates a family with familial isolated hypoparathyroidism (FIH), highlighting a specific mutation that leads to high levels of functionally inactive parathyroid hormone (PTH) in a 34-year-old woman and her siblings.* -
- The siblings were diagnosed with pseudohypoparathyroidism type 1b, characterized by chronic low calcium levels and elevated PTH, but without the typical features of related disorders.* -
- Treatment with teriparatide, a recombinant human PTH, successfully normalized calcium levels and improved wellbeing for the patient, indicating that inactive variants of PTH can lead to complex hypocalcemia cases.*
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