Infantile hypophosphatasia caused by a novel compound heterozygous mutation: a case report and pedigree analysis.
- Author:
Deng-Feng LI
1
;
Dan LAN
;
Jing-Zi ZHONG
;
Roma Kajal DEWAN
;
Yan-Shu XIE
;
Ying YANG
Author Information
1. Department of Pediatrics, First Affiliated Hospital of Guangxi Medical University, Nanning 530021, China. land6785@163.com.
- Publication Type:Case Reports
- MeSH:
Alkaline Phosphatase;
genetics;
Carrier Proteins;
chemistry;
Female;
Heterozygote;
Humans;
Hypophosphatasia;
etiology;
genetics;
Infant;
Male;
Mutation;
Pedigree
- From:
Chinese Journal of Contemporary Pediatrics
2017;19(5):539-544
- CountryChina
- Language:Chinese
-
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.
