Literature DB >> 36093452

Fontaine progeroid syndrome-A case report.

Sinéad Lally1, Nicola Walsh2, Janna Kenny2, Orla Franklin3,4, Melanie Cotter5,6, Sarah Richardson7, Fiona McEligott8, Alan Finan1.   

Abstract

Fontaine progeroid syndrome (FPS) is an autosomal dominant condition caused by pathogenic variants in the SLC25A24 gene. Eleven cases have been described in the literature, with early lethality in some. We discuss the clinical course of a patient from birth until his death at 7 months.
© 2022 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd.

Entities:  

Keywords:  Fontaine progeroid syndrome; Gorlin Chaudry—Moss Syndrome; SLC25A24 gene; anal prolapse; brachycephaly; craniosynostosis; cryptorchidism; deficient endochondral ossification; delayed bone age; high arched palate; hypertrichosis; large anterior fontanelle; laterally up slanting eyebrows; low bone density; microdontia; midface hypoplasia; oligodontia; poor skull ossification; progeroid appearance; short/absent distal phalanges of hands and feet; syndactyly; umbilical hernia; wrinkled skin

Year:  2022        PMID： 36093452      PMCID： PMC9448962          DOI： 10.1002/ccr3.6291

Source DB:  PubMed          Journal:  Clin Case Rep        ISSN： 2050-0904


  15 in total

1.  Craniofacial dysostosis, patent ductus arteriosus, hypertrichosis, hypoplasia of labia majora, dental and eye anomalies-a new syndrome?

Authors:  R J GORLIN; A P CHAUDHRY; M L MOSS
Journal:  J Pediatr       Date:  1960-06       Impact factor: 4.406

2.  Identification of a novel human subfamily of mitochondrial carriers with calcium-binding domains.

Authors:  Araceli del Arco; Jorgina Satrústegui
Journal:  J Biol Chem       Date:  2004-03-30       Impact factor: 5.157

Review 3.  Overview of paediatric palliative care.

Authors:  E Aidoo; D Rajapakse
Journal:  BJA Educ       Date:  2018-12-14

4.  Two sisters resembling Gorlin-Chaudhry-Moss syndrome.

Authors:  Teresa Aravena; Cristóbal Passalacqua; Oscar Pizarro; Mariana Aracena
Journal:  Am J Med Genet A       Date:  2011-09-09       Impact factor: 2.802

5.  Gorlin-Chaudhry-Moss syndrome revisited: expanding the phenotype.

Authors:  Rasim O Rosti; Kadri Karaer; Birsen Karaman; Deniz Torun; Sefik Guran; Muhterem Bahce
Journal:  Am J Med Genet A       Date:  2013-05-17       Impact factor: 2.802

6.  Identification of the mitochondrial ATP-Mg/Pi transporter. Bacterial expression, reconstitution, functional characterization, and tissue distribution.

Authors:  Giuseppe Fiermonte; Francesco De Leonardis; Simona Todisco; Luigi Palmieri; Francesco Massimo Lasorsa; Ferdinando Palmieri
Journal:  J Biol Chem       Date:  2004-04-29       Impact factor: 5.157

7.  De Novo Mutations in SLC25A24 Cause a Disorder Characterized by Early Aging, Bone Dysplasia, Characteristic Face, and Early Demise.

Authors:  Karin Writzl; Ales Maver; Lidija Kovačič; Paula Martinez-Valero; Laura Contreras; Jorgina Satrustegui; Marco Castori; Laurence Faivre; Pablo Lapunzina; André B P van Kuilenburg; Slobodanka Radović; Christel Thauvin-Robinet; Borut Peterlin; Araceli Del Arco; Raoul C Hennekam
Journal:  Am J Hum Genet       Date:  2017-11-02       Impact factor: 11.025

8.  A 9-year-old Korean girl with Fontaine progeroid syndrome: a case report with further phenotypical delineation and description of clinical course during long-term follow-up.

Authors:  Jaehui Ryu; Jung Min Ko; Choong-Ho Shin
Journal:  BMC Med Genet       Date:  2019-11-27       Impact factor: 2.103

Review 9.  Diseases Caused by Mutations in Mitochondrial Carrier Genes SLC25: A Review.

Authors:  Ferdinando Palmieri; Pasquale Scarcia; Magnus Monné
Journal:  Biomolecules       Date:  2020-04-23

Review 10.  Telomere Biology and Human Phenotype.

Authors:  Kara J Turner; Vimal Vasu; Darren K Griffin
Journal:  Cells       Date:  2019-01-19       Impact factor: 6.600
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