SATB2-associated syndrome caused by a novel SATB2 mutation in a Chinese boy: A case report and literature review.

ABSTRACT:

Background

Special AT-rich sequence binding protein 2 (SATB2)-associated syndrome (SAS; OMIM 612313) is an autosomal dominant disorder. Alterations in the SATB2 gene have been identified as causative.

Case summary

We report a case of a 13-year-old Chinese boy with lifelong global developmental delay, speech and language delay, and intellectual disabilities. He had short stature and irregular dentition, but no other abnormal clinical findings. A de novo heterozygous nonsense point mutation was detected by genetic analysis in exon 6 of SATB2, c.687C>A (p.Y229X) (NCBI reference sequence: NM_001172509.2), and neither of his parents had the mutation. This mutation is the first reported and was evaluated as pathogenic according to the guidelines from the Ameri

SUBMITTER: Zhu YY 

PROVIDER: S-EPMC8316932 | biostudies-literature | 2021 Jul

REPOSITORIES: biostudies-literature