• Duc Quan Nguyen, Thi Bich Ngoc Can, Chi Dung Vu, Thi Anh Thuong Tran, Ngoc Lan Nguyen, Thi Kim Lien Nguyen, Van Tung Nguyen, Thanh Hien Nguyen, Thi Huong Giang Tran, and Huy Hoang Nguyen.
• Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Cau Giay, Hanoi, Vietnam.
• Medicine (Baltimore). 2024 Sep 6; 103 (36): e39509e39509.

RationaleSkeletal 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 ConcernsA 13-month-old female was admitted to the hospital due to the symptoms of jaundice and failure to thrive.DiagnosesThe 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.InterventionsWhole 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.OutcomesA novel frameshift mutation in the BAAT gene of a Vietnamese female child diagnosed with skeletal dysplasia has been studied by whole exome sequencing analysis.LessonsThis 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.Copyright © 2024 the Author(s). Published by Wolters Kluwer Health, Inc.

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