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Prenatal onset GAPO syndrome with a novel ANTXR1 variant in an Indian child: Expansion of the phenotype & literature review.
Balakrishnan, Surya; Goud, Iravathy; Teegala, Madhavi Latha.
Afiliación
  • Balakrishnan S; Apollo Hospitals, Jubilee Hills, Hyderabad, India. Electronic address: gierra@gmail.com.
  • Goud I; Apollo Hospitals, Jubilee Hills, Hyderabad, India. Electronic address: driravthy_g@apollohospitals.com.
  • Teegala ML; Bhishak Fetal Medicine Center, Vijayawada, Andhra Pradesh, India. Electronic address: madhavi.teegala@gmail.com.
Eur J Med Genet ; 68: 104929, 2024 Apr.
Article en En | MEDLINE | ID: mdl-38423276
ABSTRACT
GAPO syndrome is a rare genetic condition caused by bi-allelic variants in ANTXR1 gene & is an abbreviation for its core features - growth retardation, alopecia, pseudo-anodontia & optic atrophy. Certain additional features involving various other systems have been reported over the years & contribute to the expanding spectrum of this evolving phenotype. We report GAPO syndrome in a 3.75 year old Indian female child, who presented with some unique features such as sagittal craniosynostosis with scaphocephaly & bilateral choroid plexus cysts, alongside the core phenotype. We also report a novel frameshift variant in our patient & offer first evidence for the prenatal onset of some features.
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Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Atrofias Ópticas Hereditarias / Anodoncia Límite: Child, preschool / Female / Humans / Pregnancy Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article Pais de publicación: Países Bajos

Texto completo: 1 Colección: 01-internacional Base de datos: MEDLINE Asunto principal: Atrofias Ópticas Hereditarias / Anodoncia Límite: Child, preschool / Female / Humans / Pregnancy Idioma: En Revista: Eur J Med Genet Asunto de la revista: GENETICA MEDICA Año: 2024 Tipo del documento: Article Pais de publicación: Países Bajos