Microdeletions of 5.5 Mb (4q13.2-q13.3) and 4.1 Mb (7p15.3-p21.1) associated with a saethre-chotzen-like phenotype, severe intellectual disability, and autism

We observed a patient with a Saethre–Chotzen‐like phenotype with severe neurological features. Saethre–Chotzen syndrome (acrocephalosyndactyly type III; SCS; OMIM #101400) is an autosomal dominant craniosynostosis syndrome characterized by craniofacial and mild limb abnormalities. The phenotypic fea...

Full description

Saved in:
Bibliographic Details
Published in:American journal of medical genetics. Part A 2013-08, Vol.161A (8), p.2078-2083
Main Authors: Shimada, Shino, Okamoto, Nobuhiko, Nomura, Shohei, Fukui, Miho, Shimakawa, Shuichi, Sangu, Noriko, Shimojima, Keiko, Osawa, Makiko, Yamamoto, Toshiyuki
Format: Article
Language:English
Subjects:
Acrocephalosyndactylia - diagnosis
Acrocephalosyndactylia - genetics
autism
Autistic Disorder - diagnosis
Autistic Disorder - genetics
Child, Preschool
Chromosome Deletion
Chromosomes, Human, Pair 4 - genetics
Chromosomes, Human, Pair 7 - genetics
Comparative Genomic Hybridization
concurrent chromosomal deletions
Humans
In Situ Hybridization, Fluorescence
intellectual disability
Intellectual Disability - diagnosis
Intellectual Disability - genetics
Male
Nuclear Proteins - genetics
Phenotype
Saethre-Chotzen syndrome
Twist-Related Protein 1 - genetics
TWIST1
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary:We observed a patient with a Saethre–Chotzen‐like phenotype with severe neurological features. Saethre–Chotzen syndrome (acrocephalosyndactyly type III; SCS; OMIM #101400) is an autosomal dominant craniosynostosis syndrome characterized by craniofacial and mild limb abnormalities. The phenotypic features of chromosomal microdeletions involving the 7p21.1, where the twist homolog 1 gene (TWIST1) responsible for SCS is located, are recognized as a contiguous gene deletion syndrome with SCS and other phenotypic manifestations. In this study, we identified microdeletions in 4q13.2 and 7p21.1 in a patient with SCS and severe neurological features including developmental delay and autistic behavior. In comparison to other SCS patients with intragenic mutations or small deletions in 7p21.1, neurological features seen in this patient were extremely severe, likely modified by a concurrent deletion of 4q13.2. Both microdeletions were de novo and paternal in origin. Further information on such concurrent chromosomal deletions should be accumulated for better understanding of the mechanism. © 2013 Wiley Periodicals, Inc.
ISSN:1552-4825
1552-4833
DOI:10.1002/ajmg.a.36027