scholarly journals A Chinese newborn with Zellweger syndrome and compound heterozygous mutations novel in the PEX1 gene: a case report and literature review

2021 ◽  
Vol 10 (2) ◽  
pp. 446-453
Author(s):  
Pei Lu ◽  
Li Ma ◽  
Jingjing Sun ◽  
Xiaohui Gong ◽  
Cheng Cai
Keyword(s):  
Case Report ◽  
Literature Review ◽  
Zellweger Syndrome ◽  
Compound Heterozygous ◽  
Compound Heterozygous Mutations

Atrichia with Papular Lesions in a Chinese Family Caused by Novel Compound Heterozygous Mutations and Literature Review

Dermatology ◽  
2013 ◽  
Vol 226 (1) ◽  
pp. 68-74 ◽  
Author(s):  
Shuang Wang ◽  
Chen Tu ◽  
Yiguo Feng ◽  
Xiaopeng Wang ◽  
Dingwei Zhang ◽  
...  
Keyword(s):  
Literature Review ◽  
Chinese Family ◽  
Compound Heterozygous ◽  
Compound Heterozygous Mutations

scholarly journals Compound heterozygous mutations in the neuraminidase 1 gene in type 1 sialidosis: A case report and review of literature

2021 ◽  
Vol 9 (3) ◽  
pp. 623-631
Author(s):  
Lan-Xiao Cao ◽  
Ying Liu ◽  
Zhao-Jun Song ◽  
Bao-Rong Zhang ◽  
Wen-Ying Long ◽  
...  
Keyword(s):  
Case Report ◽  
Compound Heterozygous ◽  
Review Of Literature ◽  
Compound Heterozygous Mutations

scholarly journals HYPOPHOSPHATEMIC RICKETS WITH HYPERCALCIURIA: A NOVEL HOMOZYGOUS MUTATION IN SLC34A3 AND LITERATURE REVIEW

2020 ◽  
Vol 6 (3) ◽  
pp. e105-e112
Author(s):  
Sanjay K. Bhadada ◽  
Subbiah Sridhar ◽  
Vandana Dhiman ◽  
Karen Wong ◽  
Bruce Bennetts ◽  
...  
Keyword(s):  
Standard Deviation ◽  
Literature Review ◽  
Serum Phosphate ◽  
Accurate Diagnosis ◽  
Gene Panel ◽  
Hypophosphatemic Rickets ◽  
Compound Heterozygous ◽  
Homozygous Mutation ◽  
Bone Phenotype ◽  
Compound Heterozygous Mutations

Objective: Hypophosphatemic rickets with hypercalciuria (HHRH) is a rare, recessively-inherited form of rickets caused by homozygous or compound heterozygous mutations in the SLC34A3 gene that encodes the renal tubular phosphate transporter protein NaPi2c. The bone phenotype varies from severe rickets to no disease. Accurate diagnosis is important as the treatment differs from other forms of rickets. Methods: The patient was a 12-year-old boy from the Indian subcontinent with florid hypophosphatemic rickets. A targeted gene panel to search for mutations in genes associated with inherited forms of rickets was performed. We also completed a literature search of published cases of HHRH. Results: The targeted gene panel demonstrated a novel homozygous SLC34A3 mutation: c.1339 G>A (p.Ala447Thr). His parents were heterozygous for the mutation. In our literature review we found that people with homozygous SLC34A3 mutations were more likely to have rickets than those with compound heterozygous mutations (85% versus 45%, p<0.002) and that serum phosphate z scores were lower in those with rickets than those without (−3.3 with a standard deviation of 1.5 versus −2.1 with a standard deviation of 1.5, p<0.005). Conclusion: The bone phenotype of HHRH is related to the nature of the mutation and serum phosphate levels. Targeted gene panels can aid in the accurate diagnosis of inherited forms of rickets, and facilitate correct treatment.

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