Analysis of clinical manifestations and genetic characteristics of autosomal recessive cutis laxa caused by PYCR1 variants

doi:10.3969/j.issn.1673-8640.2021.02.004

Abstract

Abstract:

Objective To analyze the clinical manifestations and genetic characteristics of autosomal recessive cutis laxa（ARCL） caused by PYCR1 variants. Methods The clinical data of a patient with ARCL caused by PYCR1 variants were collected. The patient and his parents' blood samples were taken for whole exome sequencing. Clinical manifestations and genetic characteristics of ARCL were analyzed in combination with the literatures. Results The patient with a height of 81.7cm（-2.48s）and a weight of 8.0 kg（-2.68s）. Physical examination showed special facial features,torticollis,exposed thoracic and abdominal wall veins,obvious loose and wrinkled body skin. Previous history showed cryptorchidism and indirect inguinal hernia. WES identified compound heterozygous variants（c.345delC/p.Arg115Glyfs*7 and c.413G>A/p.Gly138Asp）of exon 4 in PYCR1 gene,among which c.413G>A/p.Gly138Asp was a new variant unreported. Combined with previously published data,115 cases of PYCR1-related ARCL mainly presented with skin laxity [100%（84/84）],obvious skin wrinkles [97.8%（88/90）],mental retardation or global developmental disabilities [95.2%（100/105）],joint relaxation [94.2%（65/69）],decreased bone density [73.8%（45/61）],clasped thumb [63.4%（26/41）],dislocation of hip joint [59.6%（53/89）],triangular face [93.1%（27/29）],microcephaly [72.6%（45/62）] and short stature [83.6%（51/61）]. Conclusion Patients presented with presenile appearance,mental retardation,global developmental disabilities,special facial features,short stature and joint relaxation should be considered for PYCR1-related ARCL. Genetic test aids to confirm diagnosis.

Key words: PYCR1 gene, Autosomal recessive cutis laxa, Special face, Intelligence disability, Short stature

CLC Number:

Q754

WU Wenyong, SHANGGUAN Huakun, CHEN Ruimin. Analysis of clinical manifestations and genetic characteristics of autosomal recessive cutis laxa caused by PYCR1 variants[J]. Laboratory Medicine, 2021, 36(2): 135-139.

Figures/Tables 2

References 20

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