Rhizomelic chondrodysplasia punctata type 1: report of mutations in 3 children from India.
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.
Department of Medical Genetics, Sanjay Gandhi Postgraduate Institute of Medical Sciences, Lucknow-226014, India. shubha@sgpgi.ac.in
S R
SR
Phadke
N
N
Gupta
K M
KM
Girisha
M
M
Kabra
M
M
Maeda
E
E
Vidal
A
A
Moser
S
S
Steinberg
R D
RD
Puri
I C
IC
Verma
N
N
Braverman
D000293:Adolescent; D018902:Chondrodysplasia Punctata, Rhizomelic / Q000235:genetics* / Q000473:pathology*; D005260:Female; D018703:Founder Effect; D006801:Humans; D007194:India; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D009154:Mutation / Q000235:genetics*; D000074437:Peroxisomal Targeting Signal 2 Receptor; D018160:Receptors, Cytoplasmic and Nuclear / Q000235:genetics*
C000614269:PEX7 protein, human; D000074437:Peroxisomal Targeting Signal 2 Receptor; D018160:Receptors, Cytoplasmic and Nuclear