De novo and inherited TCF20 pathogenic variants are associated with intellectual disability, dysmorphic features, hypotonia, and neurological impairments with similarities to Smith-Magenis syndrome

• Published in: Genome medicine Vol. 11; no. 1; pp. 12 - 17
• Main Authors: Vetrini, Francesco, McKee, Shane, Rosenfeld, Jill A, Suri, Mohnish, Lewis, Andrea M, Nugent, Kimberly Margaret, Roeder, Elizabeth, Littlejohn, Rebecca O, Holder, Sue, Zhu, Wenmiao, Alaimo, Joseph T, Graham, Brett, Harris, Jill M, Gibson, James B, Pastore, Matthew, McBride, Kim L, Komara, Makanko, Al-Gazali, Lihadh, Al Shamsi, Aisha, Fanning, Elizabeth A, Wierenga, Klaas J, Scott, Daryl A, Ben-Neriah, Ziva, Meiner, Vardiella, Cassuto, Hanoch, Elpeleg, Orly, Holder, Jr, J Lloyd, Burrage, Lindsay C, Seaver, Laurie H, Van Maldergem, Lionel, Mahida, Sonal, Soul, Janet S, Marlatt, Margaret, Matyakhina, Ludmila, Vogt, Julie, Gold, June-Anne, Park, Soo-Mi, Varghese, Vinod, Lampe, Anne K, Kumar, Ajith, Lees, Melissa, Holder-Espinasse, Muriel, McConnell, Vivienne, Bernhard, Birgitta, Blair, Ed, Harrison, Victoria, Muzny, Donna M, Gibbs, Richard A, Elsea, Sarah H, Posey, Jennifer E, Bi, Weimin, Lalani, Seema, Xia, Fan, Yang, Yaping, Eng, Christine M, Lupski, James R, Liu, Pengfei
• Format: Journal Article
• Language: English
• Published: England BioMed Central 28.02.2019; BMC
• Subjects: 22q13; Adolescent; Alleles; Androgens; Autism; Child; Child, Preschool; Craniofacial Abnormalities - genetics; Craniofacial Abnormalities - pathology; Developmental Disabilities - genetics; Developmental Disabilities - pathology; DNA microarrays; Female; Gene deletion; Gene dosage; Genes; Genomes; Genomics; Genotypes; Haploinsufficiency; Heredity; Humans; INDEL Mutation; Infant; Influence; Intellectual disabilities; Intellectual Disability - genetics; Intellectual Disability - pathology; Loss-of-function variants; Male; Movement disorders; Muscle Hypotonia - genetics; Muscle Hypotonia - pathology; Neurodevelopmental disorders; Obesity; Phenotypes; Proteins; Sleep; Smith-Magenis Syndrome - genetics; Smith-Magenis Syndrome - pathology; Smith–Magenis syndrome; TCF20; Transcription; Transcription Factors - genetics; Transcription Factors - metabolism; Young Adult; Deletions; 22q13; TCF20; Loss-of-function variants; Neurodevelopmental disorders; Haploinsufficiency; Smith–Magenis syndrome

Neurodevelopmental disorders are genetically and phenotypically heterogeneous encompassing developmental delay (DD), intellectual disability (ID), autism spectrum disorders (ASDs), structural brain abnormalities, and neurological manifestations with variants in a large number of genes (hundreds) ass...