Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study

Liang, Yijia; Wu, Honglin; He, X. T.; He, Xu

doi:10.3389/fgene.2022.932073

Cited by 2 publications

(1 citation statement)

References 21 publications

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“…However, the available data were still limited. There were only three FGD1 -related AAS patients reported to receive rhGH treatment, with two patients having improved height [ 18 – 20 ]. In our study, rhGH treatment showed height improvement in the patients, and there were no serious adverse reactions during the treatment.…”

Section: Discussionmentioning

confidence: 99%

FGD1-related Aarskog–Scott syndrome: Identification of four novel variations and a literature review of clinical and molecular aspects

Li,

Tian,

Wen

et al. 2024

Eur J Pediatr

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Patients with Aarskog–Scott syndrome (AAS) have short stature, facial anomalies, skeletal deformities, and genitourinary malformations. FYVE, RhoGEF, and PH domain-containing 1 (FGD1) is the only known causative gene of AAS. However, the diagnosis of AAS remains difficult, and specific treatments are still absent. Patients suspected with AAS were recruited, and clinical information was collected. Genetic testing and functional analysis were carried out for the diagnosis. By literature review, we summarized the clinical and genetic characteristics of FGD1-related AAS and analyzed the genotype–phenotype correlation. Five patients were recruited, and four novel FGD1 variants were identified. The diagnosis of AAS was confirmed by genetic analysis and functional study. Three patients treated with growth hormone showed improved heights during the follow-up period. By literature review, clinical features of AAS patients with FGD1 variants were summarized. Regarding FGD1 variations, substitutions were the most common form, and among them, missense variants were the most frequent. Moreover, we found patients with drastic variants showed higher incidences of foot and genitourinary malformations. Missense variants in DH domain were related to a lower incidence of cryptorchidism. Conclusion: We reported four novel pathogenic FGD1 variations in AAS patients and confirmed the efficacy and safety of growth hormone treatment in FGD1-related AAS patients with growth hormone deficiency. Additionally, our literature review suggested the crucial role of DH domain in FGD1 function. What is Known:• Aarskog–Scott syndrome is a rare genetic disease, and the only known cause is the variant in FGD1 gene. The typical clinical manifestations of AAS include facial, skeletal, and urogenital deformities and short stature. What is New:• We reported four novel FGD1 variants and reported the treatment of growth hormone in FGD1-related AAS patients. Our genotype–phenotype correlation analysis suggested the crucial role of DH domain in FGD1 function.

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Section: Discussionmentioning

confidence: 99%

FGD1-related Aarskog–Scott syndrome: Identification of four novel variations and a literature review of clinical and molecular aspects

Li,

Tian,

Wen

et al. 2024

Eur J Pediatr

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Child with KBG syndrome

Jyothi,

Angel,

Ravi Kumar

et al. 2024

BMJ Case Rep

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We report a male child with developmental delay, microcephaly and facial dysmorphism in the form of a turri-brachycephaly-shaped skull, triangular face, posteriorly rotated lop ears, thick bushy eyebrows, synophrys, long deep philtrum and prominent incisors. The mobile application Face2Gene was used to screen the patient’s facial photographs for known syndromes. The application suggested a high likelihood of KBG syndrome. Exome sequencing confirmed this by identifying a heterozygous pathogenic known mutation p.Tyr1406Ter in theANKRD11gene. Thus, the diagnosis of KBG syndrome was suggested only by the Face2Gene application, and the confirmation required DNA testing such as exome sequencing analysis.

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Case Report: Aarskog-scott syndrome caused by FGD1 gene variation: A family study

Cited by 2 publications

References 21 publications

FGD1-related Aarskog–Scott syndrome: Identification of four novel variations and a literature review of clinical and molecular aspects

FGD1-related Aarskog–Scott syndrome: Identification of four novel variations and a literature review of clinical and molecular aspects

Child with KBG syndrome

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