Article
Identification of a De Novo Heterozygous Frameshift Variant in FMR1 in a Female With Fragile X Syndrome.
Clinical genetics - 1 Aug 2025
Parra Alejandro, Jimenez-Estrada Juan A, Vásquez-Amell Valeria, Cazalla Mario, Rodríguez-Canó Manuel, Gallego-Zazo Natalia, Miranda Lucia, Mora-Gómez Mónica, Vallespín Elena, Mena Rocío, Fernández Luis, Silván Cristina, Arias Pedro, Dominguez-Jiménez Marta, Guillén-Navarro Encarna, Nevado Julián, Tenorio-Castano Jair, Ruiz-Pérez Víctor L, Lapunzina Pablo
Abstract excerpt
We present a 28-year-old Spanish female with a de novo heterozygous variant in FMR1 (NM_002024.6:c.1061_1062delAA), p.(Lys354Thrfs*15) detected by whole-exome sequencing and confirmed by Sanger sequencing from cDNA. She was born full-term with neonatal jaundice requiring phototherapy. At age 11, she exhibited weight and head circumference > 97th percentile, global developmental delay, mild ID (IQ: 71), and...
Topics
- Humans
- Female
- Fragile X Messenger Ribonucleoprotein 1
- Adult
- Heterozygote
- Frameshift Mutation
- Fragile X Syndrome
- Exome Sequencing
- Phenotype