Carpenter syndrome in a patient from Tanzania.
Am J Med Genet A
; 185(3): 986-989, 2021 03.
Article
en En
| MEDLINE
| ID: mdl-33368989
ABSTRACT
Carpenter syndrome (acrocephalopolysyndactyly type II) is a rare autosomal recessive disorder. It was clinically diagnosed in a female baby with polysyndactyly and craniosynostosis in a referral clinic in Northern Tanzania. In the RAB23 gene, a previously described homozygous variant c.82C>T p.(Arg28*) was detected that results in a premature stop codon. Both parents were demonstrated to be heterozygous carriers of this variant. Herewith, its pathogenicity is proved. A literature search suggests this is the first molecularly confirmed case of Carpenter syndrome in continental Africa.
Palabras clave
Texto completo:
1
Colección:
01-internacional
Banco de datos:
MEDLINE
Asunto principal:
Anomalías Múltiples
/
Acrocefalosindactilia
/
Mutación Puntual
/
Codón sin Sentido
/
Proteínas de Unión al GTP rab
Límite:
Female
/
Humans
/
Infant
/
Male
País/Región como asunto:
Africa
Idioma:
En
Revista:
Am J Med Genet A
Asunto de la revista:
GENETICA MEDICA
Año:
2021
Tipo del documento:
Article
País de afiliación:
Tanzania