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A novel mutation in MYCN gene causing congenital absence of the flexor pollicis longus tendon as an unusual presentation of Feingold syndrome 1
- Source :
- Clinical Dysmorphology. 30:71-75
- Publication Year :
- 2020
- Publisher :
- Ovid Technologies (Wolters Kluwer Health), 2020.
-
Abstract
- Feingold syndrome 1 (FGLDS1) is an autosomal dominant malformation syndrome, characterized by skeletal anomalies, microcephaly, facial dysmorphism, gastrointestinal atresias and learning disabilities. Mutations in the MYCN gene are known to be the cause of this syndrome. Congenital absence of the flexor pollicis longus (CAFPL) tendon is a rare hand anomaly. Most cases are sporadic and no genetic variants have been described associated with this abnormality. We describe here a pedigree combining familial CAFPL tendon as a feature of FGLDS1. Molecular analyses of whole exome sequence data in five affected family members spanning three generations of this family revealed a novel mutation in the MYCN gene (c.1171C>T; p.Arg391Cys). Variants in MYCN have not been published in association with isolated or syndromic CAFPL tendon, nor has this been described as a skeletal feature of Feingold syndrome. This report expands on the clinical and molecular spectrum of MYCN-related disorders and highlights the importance of MYCN protein in normal human thumb and foramen development.
- Subjects :
- Adult
Male
Models, Molecular
Microcephaly
Pathology
medicine.medical_specialty
Limb Deformities, Congenital
Thumb
Pathology and Forensic Medicine
Tendons
Structure-Activity Relationship
Intellectual Disability
Exome Sequencing
medicine
Feingold syndrome
Humans
Genetic Predisposition to Disease
Child
neoplasms
Exome
Gene
Genetic Association Studies
Genetics (clinical)
Aged
N-Myc Proto-Oncogene Protein
business.industry
Eyelids
General Medicine
Middle Aged
medicine.disease
Pedigree
Tendon
Phenotype
medicine.anatomical_structure
Mutation
Pediatrics, Perinatology and Child Health
Female
Anatomy
Abnormality
business
N-Myc
Tracheoesophageal Fistula
Subjects
Details
- ISSN :
- 09628827
- Volume :
- 30
- Database :
- OpenAIRE
- Journal :
- Clinical Dysmorphology
- Accession number :
- edsair.doi.dedup.....c4086f18bc17bdb15b103f9ef93ac172