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Article

Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.

European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society - 1 Jul 2014

Wolthuis David F G J, van Asbeck Ellyze, Mohamed Miski, Gardeitchik Thatjana, Lim-Melia Elizabeth R, Wevers Ron A, Morava Eva

Abstract excerpt

Autosomal recessive cutis laxa (ARCL) is a connective tissue disorder characterized by wrinkled, inelastic skin, frequently associated with a neurologic involvement and multisystem disease. Next generation sequencing was performed in genetically unsolved patients with progeroid features, neurological and eye involvement to assess the underlying etiology. We describe an 6 month old child, diagnosed with a novel,...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 24767728
DOI: 10.1016/j.ejpn.2014.01.003

Genes

PYCR1

Variants

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Click a neighbor to travelStep 1 · 12 closest

Cutis laxa, fat pads and retinopathy due to ALDH18A1 mutation and review of the literature.PMID 24767728Read ↗

Further expansion of the phenotypic spectrum associated with mutations in ALDH18A1, encoding Δ¹-pyrroline-5-carboxylate synthase (P5CS).Semantic proximity Read ↗

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa.Semantic proximity Read ↗

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

Two novel homozygous variants of ATP6V0A2 and ALDH18A1 lead to autosomal recessive cutis laxa type 2 and 3 in two Pakistani families.Semantic proximity Read ↗

Mutations in PYCR1 cause cutis laxa with progeroid features.Semantic proximity Read ↗

Predominant Motor Delay as a Major Presenting Clinical Sign in Cutis Laxa- Report of a Case with Review of Literature.Semantic proximity Read ↗

Autosomal dominant cutis laxa with progeroid features due to a novel, de novo mutation in ALDH18A1.Semantic proximity Read ↗

Expanding the clinical and genetic heterogeneity of hereditary disorders of connective tissue.Semantic proximity Read ↗

Novel compound-heterozygous variants in PYCR1 broaden the mutation spectrum of autosomal-recessive cutis laxaSemantic proximity Read ↗

Expanding the phenotypic spectrum of ALDH18A1-related autosomal recessive cutis laxa with a description of novel neuroradiological findings.Semantic proximity Read ↗

A missense mutation in ALDH18A1, encoding Delta1-pyrroline-5-carboxylate synthase (P5CS), causes an autosomal recessive neurocutaneous syndrome.Semantic proximity Read ↗

Mutation in pyrroline-5-carboxylate reductase 1 gene in families with cutis laxa type 2.Semantic proximity Read ↗

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