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Vertical transmission of a large calvarial ossification defect due to heterozygous variants of ALX4 and TWIST1.
Walters, Michelle E; Lacassie, Yves; Azamian, Mahshid; Franciskovich, Rachel; Zapata, Gladys; Hernandez, Patricia P; Liu, Pengfei; Campbell, Ian M; Bostwick, Bret L; Lalani, Seema R.
Afiliação
  • Walters ME; Division of Dermatology, Harbor-UCLA Medical Center, Torrance, California, USA.
  • Lacassie Y; Division of Genetics, Department of Pediatrics, Louisiana State University Health Sciences Center School of Medicine, and Children's Hospital, New Orleans, Louisiana, USA.
  • Azamian M; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Franciskovich R; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Zapata G; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Hernandez PP; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Liu P; Baylor Genetics, Houston, Texas, USA.
  • Campbell IM; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.
  • Bostwick BL; Baylor Genetics, Houston, Texas, USA.
  • Lalani SR; Division of Human Genetics, Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, USA.
Am J Med Genet A ; 185(3): 916-922, 2021 Mar.
Artigo em Inglês | MEDLINE | ID: mdl-33369125
ABSTRACT
ALX4 is a homeobox gene expressed in the mesenchyme of developing bone and is known to play an important role in the regulation of osteogenesis. Enlarged parietal foramina (EPF) is a phenotype of delayed intramembranous ossification of calvarial bones due to variants of ALX4. The contrasting phenotype of premature ossification of sutures is observed with heterozygous loss-of-function variants of TWIST1, which is an important regulator of osteoblast differentiation. Here, we describe an individual with a large cranium defect, with dominant transmission from the mother, both carrying disease causing heterozygous variants in ALX4 and TWIST1. The distinct phenotype of absent superior and posterior calvarium in the child and his mother was in sharp contrast to the other affected maternal relatives with a recognizable ALX4-related EPF phenotype. This report demonstrates comorbid disorders of Saethre-Chotzen syndrome and EPF in a mother and her child, resulting in severe skull defects reminiscent of calvarial abnormalities observed with bilallelic ALX4 variants. To our knowledge this is the first instance of ALX4 and TWIST1 variants acting synergistically to cause a unique phenotype influencing skull ossification.
Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: MEDLINE Tipo de estudo: Relato de casos Idioma: Inglês Revista: Am J Med Genet A Assunto da revista: Genética Médica Ano de publicação: 2021 Tipo de documento: Artigo País de afiliação: Estados Unidos

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Texto completo: Disponível Coleções: Bases de dados internacionais Base de dados: MEDLINE Tipo de estudo: Relato de casos Idioma: Inglês Revista: Am J Med Genet A Assunto da revista: Genética Médica Ano de publicação: 2021 Tipo de documento: Artigo País de afiliação: Estados Unidos