De novo mutation of PHEX in a type 1 diabetes patient
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Chen Fang
Abstract
A new missense mutation on the X chromosome (PHEX) at exon 4(c.442C>T) in a 4-generation Chinese Han pedigree is reported. The proband and four family members were clinically identified as the X-linked hypophosphatemic rickets (XLH) which is a dominant inherited disorder characterized by renal phosphate wasting, aberrant vitamin D metabolism, and abnormal bone mineralization. The proband is identified as hemizygous with the four female family members to be heterozygous genotypes. The discovery was made through the complete sequencing of the exons and the intron-exon boundaries of the PHEX gene of this family. The mutation caused the S141 residue to change to Phe from Ser which is perfectly conserved among humans, mice, rats, cows and chickens. PolyPhen-2 software analysis of the mutation indicated it was probably damaging. The proband was also diagnosed with type 1 diabetes (T1D) and the relationship between XLH and diabetes phenotypes was discussed in the paper.
References
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©2016 by De Gruyter
Articles in the same Issue
- Frontmatter
- Review
- Resistance to thyroid hormone α, revelation of basic study to clinical consequences
- Original Articles
- Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach
- Safety and metabolic impact of Ramadan fasting in children and adolescents with type 1 diabetes
- Waist-to-height ratio as a marker of low-grade inflammation in obese children and adolescents
- Classification and clinical characterization of metabolically “healthy” obese children and adolescents
- Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia – effect on median Phe/Tyr ratios
- Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism
- Prevalence and clinical features of polycystic ovarian syndrome in adolescents with previous childhood growth hormone deficiency
- Urate crystals deposition in the feet of overweight juveniles and those with symptomatic hyperuricemia: a dual-energy CT study
- A novel ALMS1 homozygous mutation in two Turkish brothers with Alström syndrome
- Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family
- Pituitary gigantism: a retrospective case series
- Case Reports
- A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency
- A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome
- A 33-year-old male patient with paternal derived duplication of 14q11.2–14q22.1~22.3: clinical course, phenotypic and genotypic findings
- Familial Turner syndrome: the importance of information
- De novo mutation of PHEX in a type 1 diabetes patient
- Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase
Articles in the same Issue
- Frontmatter
- Review
- Resistance to thyroid hormone α, revelation of basic study to clinical consequences
- Original Articles
- Improved molecular diagnosis of patients with neonatal diabetes using a combined next-generation sequencing and MS-MLPA approach
- Safety and metabolic impact of Ramadan fasting in children and adolescents with type 1 diabetes
- Waist-to-height ratio as a marker of low-grade inflammation in obese children and adolescents
- Classification and clinical characterization of metabolically “healthy” obese children and adolescents
- Long-term BH4 (sapropterin) treatment of children with hyperphenylalaninemia – effect on median Phe/Tyr ratios
- Compound heterozygous mutations (p.T561M and c.2422delT) in the TPO gene associated with congenital hypothyroidism
- Prevalence and clinical features of polycystic ovarian syndrome in adolescents with previous childhood growth hormone deficiency
- Urate crystals deposition in the feet of overweight juveniles and those with symptomatic hyperuricemia: a dual-energy CT study
- A novel ALMS1 homozygous mutation in two Turkish brothers with Alström syndrome
- Novel AVPR2 mutation causing partial nephrogenic diabetes insipidus in a Japanese family
- Pituitary gigantism: a retrospective case series
- Case Reports
- A novel OTX2 gene frameshift mutation in a child with microphthalmia, ectopic pituitary and growth hormone deficiency
- A novel nonsense mutation in the WFS1 gene causes the Wolfram syndrome
- A 33-year-old male patient with paternal derived duplication of 14q11.2–14q22.1~22.3: clinical course, phenotypic and genotypic findings
- Familial Turner syndrome: the importance of information
- De novo mutation of PHEX in a type 1 diabetes patient
- Congenital hypothyroidism and thyroid dyshormonogenesis: a case report of siblings with a newly identified mutation in thyroperoxidase
