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Published on: August 15, 2019
Identification of a novel BAAT frameshift mutation in a female child diagnosed with skeletal dysplasia: A case report
Duc Quan Nguyen1, Thi Bich Ngoc Can2, Chi Dung Vu2
1Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Cau Giay, Hanoi, Vietnam.
Insights
A rare skeletal dysplasia in a Vietnamese child was caused by a novel frameshift mutation in the BAAT gene. This finding highlights the importance of genetic analysis for diagnosing skeletal dysplasias and guiding clinical practice.
Area of Science:
- Genetics
- Pediatrics
- Rare Diseases
Background:
- Skeletal dysplasias encompass over 770 rare genetic disorders affecting bone and cartilage development in children.
- Diagnosis often relies on conventional methods, but whole genome sequencing aids in identifying genetic causes.
- Clinical manifestations and severity vary widely among different skeletal dysplasias.
Purpose of the Study:
- To identify the genetic etiology of skeletal dysplasia in a 13-month-old Vietnamese female presenting with jaundice and failure to thrive.
- To characterize a novel mutation in the BAAT gene associated with skeletal dysplasia.
Main Methods:
- Clinical assessment including blood tests and radiographic evaluation.
- Whole exome sequencing to analyze the proband's genetic data.
- Identification of a homozygous mutation in the BAAT gene.
Main Results:
- The patient exhibited symptoms of rickets and cholestasis, with elevated bilirubin and bile acids, and low calcium and phosphate levels.
- Whole exome sequencing revealed a novel homozygous frameshift mutation (c.388dupA) in the BAAT gene, leading to the p.R130Kfs*12 variant.
- This BAAT gene mutation was identified as the cause of skeletal dysplasia in the child.
Conclusions:
- A novel frameshift mutation in the BAAT gene is reported as the cause of skeletal dysplasia in a Vietnamese child.
- This case expands the understanding of genetic factors contributing to irregular skeletal development.
- Genetic findings provide valuable data for supporting clinical diagnosis and management of skeletal dysplasias.
Rationale:
Skeletal dysplasias are a complex series of rare genetic disorders that cause irregular development of bones, joints, and cartilages in children. A total of 770 disorders associated with 41 groups of skeletal dysplasia have been documented, demonstrating a wide range of clinical manifestations and varying levels of severity. In addition to conventional methods, whole genome sequencing has emerged as a useful approach to pinpointing the underlying etiology of skeletal dysplasias.
Patient Concerns:
A 13-month-old female was admitted to the hospital due to the symptoms of jaundice and failure to thrive.
Diagnoses:
The child was subjected to blood tests and a radiographic assessment. The blood chemistries revealed elevated levels of total bilirubin (178 µmol/L), bile acids (198 µmol/L), and low levels of serum calcium (1.69 mmol/L) and phosphate (0.8 mmol/L), along with irregular skeletal development in the forearms and legs, considering rickets and cholestasis.
Interventions:
Whole exome sequencing data of the proband revealed a homozygous mutation of c.388dupA in the BAAT (bile acid-CoA: amino acid N-acyltransferase) gene sequence. This mutation caused a frameshift in the amino acid of the BAAT protein, resulting in the pR130Kfs*12 variant. This mutation has been identified as the underlying cause of skeletal dysplasia in the proband.
Outcomes:
A novel frameshift mutation in the BAAT gene of a Vietnamese female child diagnosed with skeletal dysplasia has been studied by whole exome sequencing analysis.
Lessons:
This research reported a case of skeletal dysplasia caused by a frameshift mutation in the BAAT gene. The results of this study contribute to our understanding of the diverse factors that influence irregular skeletal development in children and provide genetic data to support clinical practice.
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