Regression
Gene: SATB1
Kohlschutter-Tonz syndrome-like (KTZSL) is characterized by global developmental delay with moderately to severely impaired intellectual development, poor or absent speech, and delayed motor skills. Although the severity of the disorder varies, many patients are nonverbal and have hypotonia with inability to sit or walk. Early-onset epilepsy is common and may be refractory to treatment, leading to epileptic encephalopathy and further interruption of developmental progress. Most patients have feeding difficulties with poor overall growth and dysmorphic facial features, as well as significant dental anomalies resembling amelogenesis imperfecta. This phenotype was reported in 28 patients (patients 13 to 40, PMID 33513338), including 9 patients from 3 families. Most variants were de novo, though some were inherited, suggestive of incomplete penetrance and variable expressivity.
Note Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228 is a milder, allelic disorder.Created: 21 Mar 2021, 7:13 a.m. | Last Modified: 21 Mar 2021, 7:13 a.m.
Panel Version: 0.258
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, NOT imprinted
Phenotypes
Kohlschutter-Tonz syndrome-like, MIM# 619229
PMID: 33513338: 42 patients with SNVs. 28 de novo, 3 inherited from an affected parent.
Missense variants - more severe, profound ID
NMD PTCs - milder disease
Functional studies show missense variants have a STRONGER binding to downstream targets
Sources: LiteratureCreated: 1 Feb 2021, 5:02 a.m.
Mode of inheritance
MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown
Phenotypes
Neurodevelopmental disorders
Publications
Mode of pathogenicity
Other
Phenotypes for gene: SATB1 were changed from Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; regression to Kohlschutter-Tonz syndrome-like, MIM# 619229; Neurodevelopmental disorder; regression
Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorder; regression to Developmental delay with dysmorphic facies and dental anomalies, MIM# 619228; Neurodevelopmental disorder; regression
Gene: satb1 has been classified as Green List (High Evidence).
Phenotypes for gene: SATB1 were changed from Neurodevelopmental disorders to Neurodevelopmental disorder; regression
Gene: satb1 has been classified as Green List (High Evidence).
gene: SATB1 was added gene: SATB1 was added to Regression. Sources: Literature Mode of inheritance for gene: SATB1 was set to MONOALLELIC, autosomal or pseudoautosomal, imprinted status unknown Publications for gene: SATB1 were set to PMID: 33513338; 33057194 Phenotypes for gene: SATB1 were set to Neurodevelopmental disorders Mode of pathogenicity for gene: SATB1 was set to Other Review for gene: SATB1 was set to GREEN