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J Pediatr Genet
DOI: 10.1055/s-0043-1764127
Original Article

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   Division of Clinical and Biochemical Genetics, Child Health Department, Royal Hospital, Muscat, Oman
,
Mariya Al Hinai
2   National Genetic Center, Royal Hospital, Muscat, Oman
,
Alya Al Hosni
2   National Genetic Center, Royal Hospital, Muscat, Oman
,
Fatima Al Amrani
3   Division of Pediatric Neurology, Sultan Qaboos University Hospital, Seeb, Oman
,
Ashwaq Al Maimani
2   National Genetic Center, Royal Hospital, Muscat, Oman
,
Nabil Al Maki
4   Division of Pediatric Neurology, Child Health Department, Royal Hospital, Muscat, Oman
,
Nadia Al Hashmi
1   Division of Clinical and Biochemical Genetics, Child Health Department, Royal Hospital, Muscat, Oman
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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 - distal arthrogryposis DA-5 - hypotonia - demyelinating

Note

This study was granted exemption from requiring ethics approval, as per the institution's regulation. Additional informed consent was obtained from all individual participants for whom identifying information is included in this article.




Publication History

Received: 20 April 2022

Accepted: 23 January 2023

Article published online:
24 February 2023

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