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American Journal of Medical Genetics.... Oct 2021Tel Hashomer camptodactyly syndrome is a long-known entity characterized by camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases....
Tel Hashomer camptodactyly syndrome is a long-known entity characterized by camptodactyly with muscular hypoplasia, skeletal dysplasia, and abnormal palmar creases. Currently, the genetic basis for this disorder is unknown, thus there is a possibility that this clinical presentation may be contained within another genetic diagnosis. Here, we present a multiplex family with a previous clinical diagnosis of Tel Hashomer camptodactyly syndrome. Whole exome sequencing and pedigree-based analysis revealed a novel hemizygous truncating variant c.269_270dup (p.Phe91Alafs*34) in the FGD1 gene (NM_004463.3) in all three symptomatic patients, congruous with a diagnosis of Aarskog-Scott syndrome. Our report adds to the limited data on Aarskog-Scott syndrome, and emphasizes the importance of unbiased comprehensive molecular testing toward establishing a diagnosis for genetic syndromes with unknown genetic basis.
Topics: Diagnosis, Differential; Dwarfism; Face; Female; Genetic Diseases, X-Linked; Genetic Predisposition to Disease; Genitalia, Male; Guanine Nucleotide Exchange Factors; Hand Deformities, Congenital; Heart Defects, Congenital; Heart Septal Defects, Atrial; Hirsutism; Humans; Limb Deformities, Congenital; Male; Muscular Diseases; Pedigree; Exome Sequencing
PubMed: 34145742
DOI: 10.1002/ajmg.a.62401 -
Zhonghua Yi Xue Yi Chuan Xue Za Zhi =... Aug 2021To detect pathogenic variant of the FGD1 gene in a boy with Aarskog-Scott syndrome.
OBJECTIVE
To detect pathogenic variant of the FGD1 gene in a boy with Aarskog-Scott syndrome.
METHODS
Genetic variant was detected by high-throughput sequencing. Suspected variant was verified by Sanger sequencing. The nature and impact of the candidate variant were predicted by bioinformatic analysis.
RESULTS
The child was found to harbor a novel c.1906C>T hemizygous variant of the FGD1 gene, which has led to conversion of Arginine to Tryptophane at codon 636(p.Arg636Trp). The same variant was found in his mother but not father. Based on the American College of Medical Genetics and Genomics guidelines, the c.1906C>T variant of FGD1 gene was predicted to be likely pathogenic(PM1+PM2+PM5+PP2+PP3+PP4).
CONCLUSION
The novel c.1906C>T variant of the FGD1 gene may underlay the Aarskog-Scott syndrome in this child. Above finding has enabled diagnosis for the boy.
Topics: Child; Dwarfism; Face; Genetic Diseases, X-Linked; Genitalia, Male; Guanine Nucleotide Exchange Factors; Hand Deformities, Congenital; Heart Defects, Congenital; Humans; Male; Mutation
PubMed: 34365618
DOI: 10.3760/cma.j.cn511374-20200605-00408 -
Annals of Clinical and Laboratory... Sep 2020Aarskog-Scott syndrome (AAS), also known as faciogenital dysplasia (FGD, OMIM # 305400), is an X-linked recessive inheritance, characterized by short stature, facial...
Aarskog-Scott syndrome (AAS), also known as faciogenital dysplasia (FGD, OMIM # 305400), is an X-linked recessive inheritance, characterized by short stature, facial dysmorphism, and skeletal abnormalities. We report the clinical and molecular analysis of a family with ASS. A 31-month-old boy and his cousin were initially mistaken for having Noonan syndrome owing to short stature and facial dysmorphism. Considering the family history, we suspected the possibility of an X-linked genetic disease and performed targeted gene panel sequencing; a novel hemizygous variant c.1192-1 G>A in was identified in both the proband and his cousin. This is the first report of ASS in Korea. Targeted gene panel sequencing can be an effective tool for diagnosing rare complex syndromes, including ASS.
Topics: Abnormalities, Multiple; Child, Preschool; Dwarfism; Face; Family; Female; Genetic Diseases, X-Linked; Genitalia, Male; Guanine Nucleotide Exchange Factors; Hand Deformities, Congenital; Heart Defects, Congenital; Humans; Male; Mutation; Pedigree; Republic of Korea
PubMed: 33067218
DOI: No ID Found -
International Journal of Gynaecology... May 2024
Topics: Male; Pregnancy; Female; Humans; Pregnancy, Twin; Face; Genitalia, Male; Ultrasonography, Prenatal; Dwarfism; Hand Deformities, Congenital; Heart Defects, Congenital; Genetic Diseases, X-Linked
PubMed: 38217107
DOI: 10.1002/ijgo.15351