Autosomal recessive cutis laxa type IIIA: Report of a patient with severe phenotype and review of the literature.

Cutis Laxa / pathology Homozygote Humans Phenotype Proline
ALDH18A1 Autosomal recessive Cutis laxa P5CS

Journal

European journal of medical genetics
ISSN: 1878-0849
Titre abrégé: Eur J Med Genet
Pays: Netherlands
ID NLM: 101247089

Informations de publication

Date de publication:
Sep 2022
Historique:
received: 09 01 2022
revised: 24 05 2022
accepted: 10 07 2022
pubmed: 17 7 2022
medline: 11 8 2022
entrez: 16 7 2022
Statut: ppublish

Résumé

Autosomal recessive cutis laxa type IIIA is a very rare genetic condition, caused by pathogenic variants in ALDH18A1, encoding delta-1-pyrroline-5-carboxylate synthase (P5CS). This enzyme catalyzes the reduction of glutamic acid to delta1-pyrroline-5-carboxylate, playing a key role in the de novo biosynthesis of proline, ornithine, and arginine. Autosomal recessive cutis laxa type IIIA is characterized by abundant and wrinkled skin, skeletal anomalies, cataract or corneal clouding and neuro-developmental disorders of variable degree. We report on a patient with autosomal recessive cutis laxa type IIIA, due to a homozygous missense c.1273C > T; p. (Arg425Cys) pathogenic variant in ALDH18A1. The patient presented a severe phenotype with serious urological involvement, peculiar cerebro-vascular abnormalities and neurodevelopmental compromise. This description contributes to better characterize the phenotypic spectrum associated with ALDH18A1 pathogenic variants, confirming the systemic involvement as a typical feature of autosomal recessive cutis laxa type IIIA.

Identifiants

DOI: 10.1016/j.ejmg.2022.104568 PMID: 35842092
pubmed: 35842092
pii: S1769-7212(22)00149-5
doi: 10.1016/j.ejmg.2022.104568
pii:
doi:

Substances chimiques

Proline 9DLQ4CIU6V

Types de publication

Journal Article Review

Langues

eng

Sous-ensembles de citation

IM

Pagination

104568

Informations de copyright

Copyright © 2022 Elsevier Masson SAS. All rights reserved.

Auteurs

Licia Lugli (L)

Neonatology Unit, Mother-Child Department, University Hospital of Modena, Italy. Electronic address: lugli.licia@aou.mo.it.

Francesca Cavalleri (F)

Neuroradiology Unit, University Hospital of Modena, Italy.

Emma Bertucci (E)

Obstetric-Gynecology Unit, Mother-Child Department, University Hospital of Modena, Italy.

Björn Fischer-Zirnsak (B)

Institute of Medical Genetics and Human Genetics, Charité- Universitätsmedizin Berlin, Corporate Member of Freie Universität Berlin, Humboldt Universität zu Berlin, And Berlin Institute of Health, Berlin, Germany.

Giulia Cinelli (G)

Postgraduate School of Pediatrics, Department of Medical and Surgical Sciences for Mother, Children and Adults, University of Modena and Reggio Emilia, Italy.

Viola Trevisani (V)

Postgraduate School of Pediatrics, Department of Medical and Surgical Sciences for Mother, Children and Adults, University of Modena and Reggio Emilia, Italy.

Cecilia Rossi (C)

Neonatology Unit, Mother-Child Department, University Hospital of Modena, Italy.

Marika Riva (M)

Pediatric Unit, Mother-Child Department, University Hospital of Modena, Italy.

Lorenzo Iughetti (L)

Postgraduate School of Pediatrics, Department of Medical and Surgical Sciences for Mother, Children and Adults, University of Modena and Reggio Emilia, Italy; Pediatric Unit, Mother-Child Department, University Hospital of Modena, Italy.

Alberto Berardi (A)

Neonatology Unit, Mother-Child Department, University Hospital of Modena, Italy.

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Classifications MeSH

questionsmedicales.fr › Maladies de la peau et du tissu conjonctif › Maladies de la peau › Maladies génétiques de la peau › Cutis laxa › Autosomal recessive cutis laxa type IIIA:...
questionsmedicales.fr › Phénomènes génétiques › Génotype › Homozygote › Autosomal recessive cutis laxa type IIIA:...
questionsmedicales.fr › Eucaryotes › Animaux › Chordés › Vertébrés › Mammifères › Eutheria › Primates › Haplorhini › Catarrhini › Hominidae › Humains › Autosomal recessive cutis laxa type IIIA:...
questionsmedicales.fr › Phénomènes génétiques › Phénotype › Autosomal recessive cutis laxa type IIIA:...
questionsmedicales.fr › Acides aminés, peptides et protéines › Acides aminés › Acides aminés cycliques › Imino-acides › Proline › Autosomal recessive cutis laxa type IIIA:...