A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel
-
Erhan Parıltay
,
Filiz Hazan
Abstract
Aarskog-Scott syndrome (ASS) is a rare X-linked recessive genetic disorder caused by FGD1 mutations. FGD1 regulates the actin cytoskeleton and regulates cell growth and differentiation by activating the c-Jun N-terminal kinase signaling cascade. ASS is characterized by craniofacial dysmorphism, short stature, interdigital webbing and shawl scrotum. However, there is a wide phenotypic heterogeneity because of the additional clinical features. ASS and some syndromes including the autosomal dominant inherited form of Robinow syndrome, Noonan syndrome, pseudohypoparathyroidism, Silver-Russel and SHORT syndrome have some overlapping phenotypic features. Herein, we report a patient with ASS and a large anterior fontanel who was initially diagnosed as Robinow syndrome. He was found to have a novel c.1340+2 T>A splice site mutation on the FGD1 gene.
Author contributions: All the authors have accepted responsibility for the entire content of this submitted manuscript and approved submission.
Research funding: None declared.
Employment or leadership: None declared.
Honorarium: None declared.
Competing interests: The funding organization(s) played no role in the study design; in the collection, analysis, and interpretation of data; in the writing of the report; or in the decision to submit the report for publication.
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Articles in the same Issue
- Frontmatter
- Review
- A germline mutation of HRPT2/CDC73 (70 G>T) in an adolescent female with parathyroid carcinoma: first case report and a review of the literature
- Original Articles
- Seroprotection status of hepatitis B and measles vaccines in children with type 1 diabetes mellitus
- Prevalence and awareness of functional and structural foot abnormalities in children and adolescents with type 1 diabetes
- WHO European Childhood Obesity Surveillance Initiative in Serbia: a prevalence of overweight and obesity among 6–9-year-old school children
- Pilot study of newborn screening of inborn error of metabolism using tandem mass spectrometry in Malaysia: outcome and challenges
- In children with autoimmune thyroid diseases the association with Down syndrome can modify the clustering of extra-thyroidal autoimmune disorders
- Identification of monogenic gene mutations in Japanese subjects diagnosed with type 1B diabetes between >5 and 15.1 years of age
- Referral pattern of children with short stature to a pediatric endocrine clinic in Kuwait
- Factors associated with post-menarcheal growth: results of a longitudinal study in Chilean girls from different socioeconomic statuses
- Percentiles for anthropometric measures in Iranian children and adolescents: the CASPIAN-IV study
- Hormone disorder and vitamin deficiency in attention deficit hyperactivity disorder (ADHD) and autism spectrum disorders (ASDs)
- Case Reports
- Hyperinsulinism-hyperammonemia syndrome: a de novo mutation of the GLUD1 gene in twins and a review of the literature
- Novel homozygous likely-pathogenic intronic variant in INS causing permanent neonatal diabetes in siblings
- A girl with permanent neonatal diabetes due to KCNJ11 mutation presented with Mauriac syndrome after improper adjustment in sulfonylurea dosage over 6 years
- Treatment experience and long-term follow-up data in two severe neonatal hyperparathyroidism cases
- A novel splice site mutation of FGD1 gene in an Aarskog-Scott syndrome patient with a large anterior fontanel
