IMPE Abstracts

Objective: To investigate the clinical and genetic characteristics of Basilicata-Akhtar syndrome caused by MSL3 gene variant.

Methods: A retrospective analysis of the clinical data, laboratory examination and gene sequencing results of a child with Basilicata-Akhtar syndrome caused by MSL3 gene mutation was analyzed and summarized in combination with literature.

Results: The boy was 7 years and 2 months old. The main manifestations were mental retardation, motor development retardation, feeding difficulties, special facial appearance, and small penis. Whole exome sequencing showed that there was a nonsense variant c.590_593delTAGT/(p.Leu197Ter) in exon 7 of the MSL3 gene. A total of two literature reports of 37 patients were retrieved, and a total of 38 patients were included in this reported. The clinical manifestations were developmental delay (100%, 38/38): language developmental delay (100%, 38/38), motor developmental delay (97.4%, 37/38), mental retardation (96.4%, 27/28), hypotonia (89.5%, 34/38), gastrointestinal diseases (80.6%, 29/36), skeletal abnormalities (70.3%, 26/37).

Conclusions: This patient has the typical clinical manifestations of Basilicata-Akhtar syndrome, which is the first time reported in Chinese population. Genetic testing can help confirm the diagnosis.