WebSmith-Kingsmore syndrome follows an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) in an affected individual’s parent or in early embryonic … WebHendrich and Bickmore (2001) reviewed human disorders which share in common defects of chromatin structure or modification, including the ATR-X spectrum of disorders ( 301040 ), ICF syndrome, Rett syndrome ( 312750 ), Rubinstein-Taybi syndrome ( 180849 ), and Coffin-Lowry syndrome ( 303600 ).
Germline mutations described in mTOR in patients with Smith-Kingsmore …
Web18 Oct 2016 · Abstract Heterozygous germline mutations in MTOR have been shown to underlie Smith–Kingsmore syndrome, a rare autosomal dominant syndrome characterized by macrocephaly, developmental delay, and dysmorphic facial features. Recently, two unrelated families with the MTOR mutation, c.5395G>A p. (Glu1799Lys), were reported. WebSmith-Kingsmore syndrome follows an autosomal dominant inheritance pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. Most cases result from new (de novo) mutations in the gene that occur during the formation of reproductive cells (eggs or sperm) in an affected individual’s parent or in early embryonic … rue philippe wolff toulouse
Expanding the phenotype of MTOR-related disorders and the Smith …
Web15 Feb 2024 · INTRODUCTION Smith-Kingsmore Syndrome (SKS), also known as macrocephaly-intellectual disability-neurodevelopmental disorder-small thorax syndrome (MINDS), is an ultra-rare, autosomal dominant disorder caused by alteredMTOR signaling. Heterozygousde novo or inherited gain-of-function (GOF) pathogenic variants of theMTOR … WebSmith-Kingsmore syndrome is a rare autosomal dominant syndromic intellectual disability syndrome characterized by macrocephaly, seizures, umbilical hernia, and facial dysmorphic features including frontal bossing, midface hypoplasia, small chin, hypertelorism with downslanting palpebral fissures, depressed nasal bridge, smooth philtrum, and thin … WebSmith-Kingsmore Syndrome Foundation (SKSF) provides the information on this website for the benefit of our patient and clinician community. SKSF is not a medical provider or … rue pichard 11