1. Novel variants in the SOX11 gene: clinical description of seven new patients.
- Author
-
Schincariol-Manhe B, Campagnolo É, Spineli-Silva S, de Leeuw N, Correia-Costa GR, Pessoa A, de Souza CFM, Stevens C, Javaher P, Scallet HF, Mohr J, Biskup S, Herkert JC, Pfundt R, Mehta L, Rekab A, Elloumi HZ, Sanyoura M, Maciel-Guerra AT, Gil-da-Silva-Lopes VL, Dos Santos AM, and Vieira TP
- Subjects
- Humans, Male, Female, Child, Adolescent, Hypogonadism genetics, Hypogonadism pathology, Child, Preschool, Intellectual Disability genetics, Intellectual Disability pathology, Microcephaly genetics, Microcephaly pathology, Phenotype, Mutation, Missense, Adult, Mutation, SOXC Transcription Factors genetics
- Abstract
Pathogenic SOX11 variants have been associated with intellectual developmental disorder with microcephaly, and with or without ocular malformations or hypogonadotropic hypogonadism (HH) (IDDMOH, OMIM # 615866). In this article, we report seven new patients with de novo SOX11 variants. Five of the variants are missense, one nonsense, and one whole-gene deletion, most of them are novel variants. The main clinical features included neurodevelopmental delay (7/7) and intellectual disability (5/7), autism/attention deficit hyperactivity disorder (5/7), microcephaly (4/7), short stature (4/7), hypotonia (4/7), and clinodactyly of the 5th fingers (5/7). HH was confirmed in two female patients with primary amenorrhea, nonvisualized/prepubertal size of the uterus, and nonvisualized ovaries. Two of the male patients presented with micropenis, two had cryptorchidism, and one had decreased testicular size, which are suggestive findings of HH. This article contributes to the clinical characterization of patients with SOX11 variants and supports the role of this gene in HH., Competing Interests: Competing interests: HZE and MS are employees of GeneDx, LLC. The other authors declare no competing interests. Ethical approval: Written consent for clinical data collection was given by legal guardians. Ethical approval was obtained by the respective institutional research ethics board for each individual., (© 2024. The Author(s), under exclusive licence to European Society of Human Genetics.)
- Published
- 2024
- Full Text
- View/download PDF