Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 539-544, 2017.
Article
in Chinese
| WPRIM
| ID: wpr-297252
ABSTRACT
This article reported the clinical features of one child with infantile hypophosphatasia (HPP) and his pedigree information. The proband was a 5-month-old boy with multiple skeletal dysplasia (koilosternia, bending deformity of both radii, and knock-knee deformity of both knees), feeding difficulty, reduction in body weight, developmental delay, recurrent pneumonia and respiratory failure, and a significant reduction in blood alkaline phosphatase. Among his parents, sister, uncle, and aunt (other family members did not cooperate with us in the examination), his parents and aunt had a slight reduction in alkaline phosphatase and his aunt had scoliosis; there were no other clinical phenotypes or abnormal laboratory testing results. His ALPL gene mutation came from c.228delG mutation in his mother and c.407G>A compound heterozygous mutation in his father. His aunt carried c.228delG mutation. The c.407G>A mutation had been reported as the pathogenic mutation of HPP, and c.228delG mutation was a novel pathogenic mutation. Hypophosphatasia is caused by ALPL gene mutation, and ALPL gene detection is an effective diagnostic method. This study expands the mutation spectrum of ALPL gene and provides a theoretical basis for genetic diagnosis of this disease.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Pedigree
/
Carrier Proteins
/
Chemistry
/
Alkaline Phosphatase
/
Genetics
/
Heterozygote
/
Hypophosphatasia
/
Mutation
Limits:
Female
/
Humans
/
Infant
/
Male
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2017
Type:
Article
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