Pseudohypoparathyroidism (PHP) is characterized by hypocalcemia and hyperphosphatemia due to resistance to parathyroid hormone (PTH). Patients with PHP-Ia often show additional hormone resistance and characteristic physical features that are collectively termed Albright's hereditary osteodystrophy (AHO). These features are also present in pseudopseudohypoparathyroidism (PPHP), but patients with this disorder do not show hormone resistance. PHP-Ib patients, on the other hand, predominantly show renal PTH resistance and lack features of AHO. From the genetic point of view, PHP-I is caused by defects in the GNAS gene or in the 5' region of this gene locus. PHP-Ia is caused by heterozygous inactivating mutations in any of the 13 exons codifying the alpha subunit of the stimulatory guanine nucleotide-binding protein (Gsα), while PHP-Ib is due to alterations in the methylation pattern of the 5' regions of the locus, usually associated with upstream microdeletions that are maternally transmitted. The imprinting pattern that affects the GNAS locus has important implications for the inheritance pattern and consequently for appropriate genetic counselling.
Download full-text PDF |
Source |
|---|---|
| http://dx.doi.org/10.1016/S1575-0922(08)75844-3 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Gene expression & biochemical analysis in alkaptonuria caused by a founder pathogenic variant across different age groups from India.
Indian J Med Res
November 2024
Department of Clinical Genetics, Christian Medical College, Vellore, Tamil Nadu, India.
Background & objectives Alkaptonuria (AKU) is an autosomal recessive disease wherein biallelic pathogenic variants in the homogentisate 1,2- dioxygenase (HGD) gene encoding the enzyme homogentisate 1,2 dioxygenase cause high levels of homogentisic acid (HGA) to circulate within the body leading to its deposition in connective tissues and excretion in urine. A homozygous splice donor variant (c.87+1G>A) has been identified to be the founder variant causing alkaptonuria among Narikuravars, a group of gypsies settled in Tamil Nadu.
View Article and Find Full Text PDFVariability in Notification of Positive Newborn Screening Results for Sickle Cell Trait Across the United States.
Adv Hematol
December 2024
Division of Hematology, Department of Medicine, Johns Hopkins University, Baltimore, Maryland, USA.
Universal in the United States (US) since 2006, newborn screening (NBS) programs for sickle cell disease (SCD) allow for early identification of the disease and, as an unintentional byproduct, identification of sickle cell trait (SCT). Unlike other carrier states, SCT is highly prevalent and is found in nearly 3 million Americans, which results in important reproductive implications. Currently, all NBS programs in the US are responsible for their own policies regarding SCT notification, and little is known about how SCT notification practices are performed and how these practices vary across NBS programs.
View Article and Find Full Text PDFWhole-genome sequencing revealed a novel structural variant in causing autosomal dominant Alport syndrome: A case report.
Heliyon
December 2024
Service de Toxicologie et Génopathies, CHU Lille, F-59000, Lille, France.
Next-generation sequencing has substantially transformed the genomic diagnosis of individuals affected by inherited renal disorders. Indeed, accurate and rapid diagnostic for patients with suspected genetic kidney diseases is not only important for prognosis and patient management but also for family counseling. Alport syndrome, a genetic disease primarily affecting the basement membrane, is characterized by hematuria, progressive kidney failure, hearing impairment, as well as ocular abnormalities and stems from mutations in genes encoding type IV collagen.
View Article and Find Full Text PDF[Genetic analysis of children with nonsyndromic sensorineural hearing loss due to novel mutations/deletions of bialleles].
Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi
December 2024
Medical Genetics Center, Gansu Provincial Maternity and Child-care Hospital, Gansu Provincial Central Hospital, Lanzhou730050, China Gansu Provincial Clinical Research Center for Birth Defects and Rare Diseases, Lanzhou730050, China.
To investigate the clinical and genetic characteristics of nonsyndromic sensorineural hearing loss caused by biallelic variation. A child with hearing impairment who was diagnosed at Gansu Provincial Maternal and Child Health Hospital on May 2022 and was selected as the research object. Peripheral blood of the child and her parents was collected, genomic DNA was extracted.
View Article and Find Full Text PDFAssociation of B-Lineage Lymphoblastic Leukaemia Gene Polymorphisms with Poor Prognostic Features.
Asian Pac J Cancer Prev
December 2024
Department of Science and Postgraduate Education, Scientific Center of Pediatrics and Pediatric Surgery, Almaty, Republic of Kazakhstan.
Objective: Of this study was to analyse the correlation of gene polymorphisms with clinical and laboratory data of paediatric patients with B-lineage acute lymphoblastic leukaemia with prognostically unfavourable features.
Methods: A study of 200 children with B-lineage acute lymphoblastic leukaemia (B-ALL) treated with polychemotherapy programmes was conducted. Analysis by sex revealed a statistically insignificant predominance of the group of boys over girls (54%).
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!