Identification of novel mutations in Mexican patients with Aarskog–Scott syndrome

Pérez-Coria, M.; Lugo-Trampe, José de Jesús; Zamudio-Osuna, Michell; Rodríguez‐Sánchez, Iram P.; Lugo‐Trampe, Ángel; Fuente-Cortez, Beatriz de la; Campos-Acevedo, Luis Daniel; Martínez-de-Villarreal, Laura Elia

doi:10.1002/mgg3.132

Cited by 13 publications

(15 citation statements)

References 25 publications

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“…In the following years, several other authors reported similar cases, describing patients whose phenotypes were characterised by the presence of variously associated signs, such as clinodactyly, brachydactyly, long philtrum, widow's peak, camptodactyly, interdigital webbing, and inguinal/umbilical hernia. ese supported the identification of a nosologically distinct condition [3,4]. In addition, various degrees of neurocognitive disabilities and/or behavior disorders were reported, ranging from attention deficit and hyperactivity disorder (ADHD) to severe intellectual disability.…”

Section: Introductionmentioning

confidence: 84%

The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review

Drumond¹,

Salgado²,

Salgado³

et al. 2021

Genetics Research

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Aarskog–Scott syndrome is a genetically and clinically heterogeneous rare condition caused by a pathogenic variant in the FGD1 gene. A systematic review was carried out to analyse the prevalence of clinical manifestations found in patients, as well as to evaluate the genotype-phenotype correlation. The results obtained show that clinical findings of the craniofacial, orthopaedic, and genitourinary tract correspond to the highest scores of prevalence. The authors reclassified the primary, secondary, and additional criteria based on their prevalence. Furthermore, it was possible to observe, in accordance with previous reports, that the reported phenotypes do not present a direct relation to the underlying genotypes.

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Section: Introductionmentioning

confidence: 84%

The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review

Drumond¹,

Salgado²,

Salgado³

et al. 2021

Genetics Research

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show abstract

“…Furthermore, to the best of our knowledge, no case of a Chinese patient with ASS has been previously reported. Table I presents the clinical manifestations of ASS in patients carrying the FGD1 mutation in different exons/introns, using information from previous studies ( 1 , 4 , 6 , 11 , 12 ). This may facilitate the direct analysis of genotype-phenotype correlations.…”

Section: Discussionmentioning

confidence: 99%

Novel variant in the FGD1 gene causing Aarskog-Scott syndrome

Niu

Wang

et al. 2017

Experimental and Therapeutic Medicine

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Aarskog-Scott syndrome (ASS) is a rare, X-linked recessive inherited disorder. Affected individuals may develop short stature and exhibit distinctive skeletal and genital development. Mutations in the FYVE, rhogef and pleckstrin homology domain-containing protein 1 (FGD1) gene, located within the Xp11.21 region, are responsible for the occurrence of ASS. Since it is rare and complex, it can take a long time to obtain a definitive clinical diagnosis unless clinicians are familiar with the disease. In the present study, whole-exome sequencing (WES) was performed to screen for causal variants in a Chinese pediatric patient who exhibited a number of clinical symptoms of ASS, including short stature, facial abnormalities, stubby metacarpals and swollen testis. DNA sequencing revealed a novel c.1270 A>G mutation in exon 6 of the FGD1 gene, which led to an amino acid conversion of asparagine to aspartic acid on codon 424 and in silico analysis indicated that this novel missense mutation was pathogenic. The present study identified a novel variant of the FGD1 gene and to the best of our knowledge, is the first report of ASS in a Chinese individual. The results indicated that WES is an effective tool for the diagnosis of rare and complex syndromes such as ASS.

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“…Moreover, there are cases of clinically-evident AAS which could not be attributed to mutations in FGD1 . As a matter of fact, some researchers argue that the majority of AAS cases are still to be characterized molecularly, with FGD1 mutations being established in a mere 20% of the cases [6]. Consequently, cases are increasingly being subjected to molecular analysis in order to determine the underlying causative variant.…”

Section: Discussionmentioning

confidence: 99%

A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE

et al. 2017

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BackgroundThe X-linked condition “Aarskog-Scott syndrome (AAS)” causes a characteristic combination of short stature, facial, genital and skeletal anomalies. Studies elucidated a causative link between AAS and mutations in the FGD1 gene, which encodes a Rho/Rac guanine exchange factor. FGD1 is involved in regulating signaling pathways that control cytoskeleton organization and embryogenesis.Case presentationFGD1 was studied in an Emirati family with two cases of AAS using PCR amplification and direct sequencing of the entire coding region of the gene. Various in silico tools were also used to predict the functional consequences of FGD1 mutations. In the reported family, two brothers harbor a novel hemizygous mutation in FGD1 c.53del (p.Pro18Argfs*106) for which the mother is heterozygous. This frameshift deletion, being close to N-terminus of FGD1, is predicted to shift the reading frame in a way that it translates to 105 erroneous amino acids followed by a premature stop codon at position 106. Full molecular and clinical accounts about the variant are given so as to expand molecular and phenotypical knowledge about this disorder.ConclusionsA novel variant in FGD1 was found in an Emirati family with two brothers suffering from AAS. The variant is predicted to be a null mutation, and this is the first report of its kind from the United Arab Emirates.Electronic supplementary materialThe online version of this article (doi:10.1186/s12887-017-0781-4) contains supplementary material, which is available to authorized users.

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Identification of novel mutations in Mexican patients with Aarskog–Scott syndrome

Cited by 13 publications

References 25 publications

The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review

The Prevalence of Clinical Features in Patients with Aarskog–Scott Syndrome and Assessment of Genotype-Phenotype Correlation: A Systematic Review

Novel variant in the FGD1 gene causing Aarskog-Scott syndrome

A novel, putatively null, FGD1 variant leading to Aarskog-Scott syndrome in a family from UAE

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