Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India

Abstract

Rhizomelic chondrodysplasia punctata is a rare autosomal recessive disorder characterized by stippled epiphyses and rhizomelic shortening of the long bones. We report 3 subjects of rhizomelic chondrodysplasia punctata from India and the PEX7 mutations identified in them. The common PEX7-L292X allele, whose high frequency is due to a founder effect in the northern European Caucasian population, was not identified in these patients. Instead, 2 novel alleles are described, including 64_65delGC, which was present on a single PEX7 haplotype and could represent a common allele in the Indian population.

A review of skeletal dysplasia research in India

“…Phadke et al . [ 27 ] have identified mutations in the PEX gene in 3 patients with rhizomelic chondrodysplasia punctata for the first time in India. Patients 1 and 3 showed homozygosity for 64_65delGC variant in PEX gene.…”

Rhizomelic Chondrodysplasia Punctata (RCDP) in a Newborn

“…There are various types of chondrodysplasia punctata ; autosomal recessive forms (RCDP types 1, 2 and 3), X-linked dominant form (Conradi-Hünermann-Happle syndrome), an X-linked recessive brachy-telephalangic type and Sheffield type 4 . Several milder forms of CDP, tibia-metacarpal type and humero-metacarpal type, have also been described 5,6 .…”

Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir – India

“…Several case reports for distinct RDs from India have been published during the recent years. These include a series of reports on accurate diagnosis of RDs cases including Acid Sphingomyelinase (ASM)-Deficient Niemann-Pick Disease, Allgrove or Triple A (Phadke et al, 2010;Dalal et al, 2012;Kehar et al, 2014;Bijarnia-Mahay et al, 2016;Ranganath et al, 2016;Setia et al, 2016;Uttarilli et al, 2016;Angural et al, 2018;Bhai et al, 2018). Besides, there are several case reports indicating the major application of NGS technology in RDs diagnostics including that of ichthyosis, rare syndromes of mineralocorticoid excess, dystrophic epidermolysis bullosa, cone dystrophy, sporadic acrokeratosis verruciformis, Dowling-Degos disease, Spastic Paraplegia 79 and many more, (Gupta et al, 2015(Gupta et al, , 2016(Gupta et al, , 2017Karuthedath Vellarikkal et al, 2016;Narayanan et al, 2016;Das Bhowmik et al, 2018;Virmani et al, 2018).…”