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Identification of a novel BAAT frameshift mutation in a female child diagnosed with skeletal dysplasia: A case report.
Nguyen, Duc Quan; Can, Thi Bich Ngoc; Vu, Chi Dung; Tran, Thi Anh Thuong; Nguyen, Ngoc Lan; Nguyen, Thi Kim Lien; Nguyen, Van Tung; Nguyen, Thanh Hien; Tran, Thi Huong Giang; Nguyen, Huy Hoang.
Afiliación
  • Nguyen DQ; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Cau Giay, Hanoi, Vietnam.
  • Can TBN; Department of Endocrinology, Metabolism and Genetic, Center for Rare Diseases and Newborn Screening, Vietnam National Hospital of Pediatrics, Dong Da, Hanoi, Vietnam.
  • Vu CD; Department of Endocrinology, Metabolism and Genetic, Center for Rare Diseases and Newborn Screening, Vietnam National Hospital of Pediatrics, Dong Da, Hanoi, Vietnam.
  • Tran TAT; Department of Endocrinology, Metabolism and Genetic, Center for Rare Diseases and Newborn Screening, Vietnam National Hospital of Pediatrics, Dong Da, Hanoi, Vietnam.
  • Nguyen NL; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Cau Giay, Hanoi, Vietnam.
  • Nguyen TKL; Graduate University of Science and Technology, Vietnam Academy of Science and Technology (VAST), Cau Giay, Hanoi, Vietnam.
  • Nguyen VT; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Cau Giay, Hanoi, Vietnam.
  • Nguyen TH; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Cau Giay, Hanoi, Vietnam.
  • Tran THG; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Cau Giay, Hanoi, Vietnam.
  • Nguyen HH; Institute of Genome Research, Vietnam Academy of Science and Technology (VAST), Cau Giay, Hanoi, Vietnam.
Medicine (Baltimore) ; 103(36): e39509, 2024 Sep 06.
Article en En | MEDLINE | ID: mdl-39252318
ABSTRACT
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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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mutación del Sistema de Lectura Límite: Female / Humans / Infant Idioma: En Revista: Medicine (Baltimore) Año: 2024 Tipo del documento: Article País de afiliación: Vietnam Pais de publicación: Estados Unidos
Texto completo
Añadir a Mi BVS
Imprimir
XML
PubMed Links
Buscar en Google

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Mutación del Sistema de Lectura Límite: Female / Humans / Infant Idioma: En Revista: Medicine (Baltimore) Año: 2024 Tipo del documento: Article País de afiliación: Vietnam Pais de publicación: Estados Unidos