ArticleMolecular genetics & genomic medicine2015
Identification of novel mutations in Mexican patients with Aarskog-Scott syndrome.
Article in Molecular genetics & genomic medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 9 papers, 1 of them a synthesis that pooled it.
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Who cites it
9 citing papers in PubMed, 1 synthesis or guideline pooled it, 15 citations in OpenAlex.
- The Prevalence of Clinical Features in Patients with Aarskog-Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review.Genetics research · 2021Pooled it
- The Co-Occurrence of Autism Spectrum Disorder and Aarskog-Scott Syndrome in an Accomplished Young Man.Pediatric reports · 2025Article
- Case Report: a novel missense variant ofFrontiers in genetics · 2025Article
- Article
- Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study.Frontiers in genetics · 2022Article
- Novel variant in theExperimental and therapeutic medicine · 2017Article
- A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE.BMC pediatrics · 2017Article
- A novel FGD1 mutation in a family with Aarskog-Scott syndrome and predominant features of congenital joint contractures.Cold Spring Harbor molecular case studies · 2016Article
- Data on single-step purification method for dye-labeled DNA sequencing.Data in brief · 2016Article
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Authors and funding
8 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Aarskog-Scott syndrome (AAS), also known as faciogenital dysplasia (FGD, OMIM # 305400), is an X-linked disorder of recessive inheritance, characterized by short stature and facial, skeletal, and urogenital abnormalities. AAS is caused by mutations in the FGD1 gene (Xp11.22), with over 56 different mutations identified to date. We present the clinical and molecular analysis of four unrelated families of Mexican origin with an AAS phenotype, in whom FGD1 sequencing was performed. This analysis identified two stop mutations not previously reported in the literature: p.Gln664* and p.Glu380*. Phenotypically, every male patient met the clinical criteria of the syndrome, whereas discrepancies were found between phenotypes in female patients. Our results identify two novel mutations in FGD1, broadening the spectrum of reported mutations; and provide further delineation of the phenotypic variability previously described in AAS.
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