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New insight into the development of synpolydactyly caused by expansion of HOXD13 polyalanine based on weighted gene co-expression network analysis.
BMC Med Genomics
October 2024
McKusick-Zhang Center for Genetic Medicine, State Key Laboratory for Complex Severe and Rare Diseases, Institute of Basic Medical Sciences Chinese Academy of Medical Sciences, School of Basic Medicine, Peking Union Medical College, Beijing, 100005, China.
Article Synopsis
- Synpolydactyly (SPD) is primarily linked to mutations in the HOXD13 gene, specifically through polyalanine expansions, and the study aims to clarify the involved cell types and signaling pathways.
- The research employed weighted gene co-expression network analysis on single-cell RNA sequencing data from limb bud cells in a mouse model harboring HOXD13 mutations.
- Results indicated that these mutations affect immune response, osteoclast differentiation, and DNA replication, with specific genes (Bmp4, Hand2, Hoxd12, among others) identified as significant contributors to SPD, enhancing our knowledge of limb development.
A new nonsense pathogenic variant in exon 1 of PHOX2B leads to the diagnosis of congenital central hypoventilation syndrome with intra-familial variability.
Arch Pediatr
October 2024
Service de pneumologie, allergologie, mucoviscidose, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, 69500 Bron, France; Service d'Épileptologie Clinique, des Troubles du Sommeil et de Neurologie Fonctionnelle de l'Enfant, Hôpital Femme Mère Enfant, Hospices Civils de Lyon, 69500 Bron, France; Unité INSERM U1028 CNRS UMR 5292, Université Lyon 1, Lyon, France. Electronic address:
Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of the autonomic nervous system resulting in decreased brain sensitivity to hypercapnia and hypoxia characterized by a genetic abnormality in the pair-like homeobox 2B (PHOX2B) gene. Most patients have a heterozygous expansion of the polyalanine repeat in exon 3 (PARM), while 10 % of patients have non-PARM (NPARM) mutations that can span the entire gene. The majority of pathogenic variants are de novo, but variants with incomplete penetrance can be identified in the heterozygous state.
View Article and Find Full Text PDFStructural characterization of PHOX2B and its DNA interaction shed light on the molecular basis of the +7Ala variant pathogenicity in CCHS.
Chem Sci
June 2024
Department of Environmental, Biological and Pharmaceutical Sciences and Technologies - University of Campania "Luigi Vanvitelli" Via Vivaldi 43 81100 Caserta Italy
An expansion of poly-alanine up to +13 residues in the C-terminus of the transcription factor PHOX2B underlies the onset of congenital central hypoventilation syndrome (CCHS). Recent studies demonstrated that the alanine tract expansion influences PHOX2B folding and activity. Therefore, structural information on PHOX2B is an important target for obtaining clues to elucidate the insurgence of the alanine expansion-related syndrome and also for defining a viable therapy.
View Article and Find Full Text PDFMidfacial toddler excoriation syndrome (MiTES): case series, diagnostic criteria and evidence for a pathogenic mechanism.
Br J Dermatol
August 2024
Cambridge Institute for Medical Research, University of Cambridge, Cambridge, UK.
Background: PRDM12 polyalanine tract expansions cause two different disorders: midfacial toddler excoriation syndrome (MiTES; itch with normal pain sensation associated with 18 homozygous alanines (18A); and congenital insensitivity to pain (CIP) with normal itch associated with 19 homozygous alanines (19A). Knowledge of the phenotype, genotype and disease mechanism of MiTES is incomplete. Why 18A vs.
View Article and Find Full Text PDFRecurrence of CCHS-associated PHOX2B Poly-Alanine expansion variant due to paternal mosaicism.
Gene
June 2024
Department of Prenatal Diagnosis Center, Maternity and Child Health Care Affiliated Hospital, Jiaxing University, Jiaxing 314000, China. Electronic address:
Background: Paired-like Homeobox 2B (PHOX2B) is considered the causative gene of Congenital Central Hypoventilation Syndrome (CCHS), a dominant genetic disorder characterized by impaired central respiratory control and subsequent hypoventilation during sleep.
Methods: Herein, we present a family with recurrent severe CCHS. The potential causative genetic variant was confirmed through Whole-Exome Sequencing (WES), Sanger sequencing, and droplet digital PCR (ddPCR).
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