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Article

Confirming the enzymatic activity and neurodevelopmental trajectory of PYCR1 mutation in one child with autosomal-recessive cutis laxa type 2.

Molecular genetics and genomics : MGG - 22 Aug 2024

Shangguan Shaofang, Zhang Xueyuan, Ge Yangyang, Han Ye, Xiao Ling, Zhang Yu, Xie Hua, Chen Xiaoli, Wang Xiaoyan

Abstract excerpt

Autosomal-recessive cutis laxa type 2 (ARCL2) is a rare genetic disorder caused by pyrroline-5-carboxylate reductase 1 (PYCR1) mutations and characterized by loose and sagging skin, typical facial features, intrauterine growth retardation, and developmental delay. To study the effect of PYCR1 mutations on protein function and clinical features, we identified a homozygous missense mutation c.559G > A (p.Ala187Thr)...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Identifiers

PMID: 39172257
DOI: 10.1007/s00438-024-02173-y
PMCID: PMC11341742

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