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. 2023 Feb 24;13(3):175-180.
doi: 10.1055/s-0043-1764127. eCollection 2024 Sep.

Distal Arthrogryposis with Impaired Proprioception and Touch: A Novel Variant in PIEZO2 Gene in Omani Patients and a Genotype-Phenotype Review from a Single-Center Experience

Aaisha Al Balushi  1 , Mariya Al Hinai  2 , Alya Al Hosni  2 , Fatima Al Amrani  3 , Ashwaq Al Maimani  2 , Nabil Al Maki  4 , Nadia Al Hashmi  1
Affiliations

Distal Arthrogryposis with Impaired Proprioception and Touch: A Novel Variant in PIEZO2 Gene in Omani Patients and a Genotype-Phenotype Review from a Single-Center Experience

Aaisha Al Balushi et al. J Pediatr Genet. .

Abstract

Distal arthrogryposis with impaired proprioception and touch (DAIPT) is an autosomal recessive neurogenetic disorder caused by homozygous pathogenic variants in the PIEZO2 gene. Here we present four Omani families with multiple affected members with DAIPT. The genetic diagnosis was established by whole exome sequencing and we identified a previously unreported homozygous missense variant PIEZO2 : c.1591T > C, P.(Trp531Arg) in one family with two affected members. All patients showed clinical manifestation shortly after birth including transient respiratory insufficiency, significant hypotonia, and gross motor developmental delay with preserved cognitive function. The skeletal manifestation including arthrogryposis is more pronounced with age as we saw in our older patient. This case report will be of importance for physicians and genetic counsellors for faster diagnosis and for offering carrier testing for at-risk family members as part of the premarital testing program, which could help in reducing the burden of this disorder.

Keywords: PIEZO-2-related disorders; demyelinating; distal arthrogryposis DA-5; hypotonia.

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Conflict of interest statement

Conflict of Interest None declared.

Figures

Fig. 1
Fig. 1
Sanger-sequencing results of PIEZO2 gene.
Fig. 2
Fig. 2
Illustrating the distal arthrogryposis involving the proximal interphalangeal joint of the hand and flexion deformity of the thumb bilaterally.
See this image and copyright information in PMC

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