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.
MeSH terms
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Abnormalities, Multiple / genetics*
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Abnormalities, Multiple / pathology
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Alternative Splicing / genetics*
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Cranial Fontanelles / pathology*
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Craniofacial Abnormalities / complications
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Craniofacial Abnormalities / genetics*
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Craniofacial Abnormalities / pathology
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Dwarfism / complications
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Dwarfism / genetics*
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Dwarfism / pathology
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Face / abnormalities*
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Face / pathology
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Genetic Diseases, X-Linked / complications
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Genetic Diseases, X-Linked / genetics*
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Genetic Diseases, X-Linked / pathology
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Genitalia, Male / abnormalities*
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Genitalia, Male / pathology
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Guanine Nucleotide Exchange Factors / genetics*
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Hand Deformities, Congenital / complications
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Hand Deformities, Congenital / genetics*
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Hand Deformities, Congenital / pathology
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Heart Defects, Congenital / complications
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Heart Defects, Congenital / genetics*
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Heart Defects, Congenital / pathology
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Humans
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Infant, Newborn
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Limb Deformities, Congenital / complications
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Limb Deformities, Congenital / genetics*
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Limb Deformities, Congenital / pathology
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Male
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Mutation / genetics*
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Prognosis
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Urogenital Abnormalities / complications
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Urogenital Abnormalities / genetics*
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Urogenital Abnormalities / pathology
Substances
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FGD1 protein, human
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Guanine Nucleotide Exchange Factors
Supplementary concepts
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Aarskog Syndrome
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Robinow Syndrome