A novel frameshift mutation in TWIST2 gene causing Setleis syndrome

Area of Science:

• Genetics
• Developmental Biology
• Medical Genetics

Background:

• Setleis syndrome is a rare autosomal recessive disorder.
• Characterized by specific facial defects and other congenital anomalies.
• Genetic basis and mutation spectrum are still being elucidated.

Observation:

• A case report of a child from a consanguineous couple presenting with bitemporal scar-like defects.
• The patient exhibited classical features consistent with Setleis syndrome.
• Novel findings included umbilical hernia and genital anomalies.

Findings:

• Identification of a novel homozygous single nucleotide deletion (c.91delC) in the TWIST2 gene.
• This mutation results in premature protein truncation (p.R31GfsX71).
• This represents the fourth genetically confirmed family with Setleis syndrome.

Implications:

• Expands the clinical and genetic spectrum of Setleis syndrome.
• Highlights the role of the TWIST2 gene in craniofacial development.
• Provides further evidence for autosomal recessive inheritance patterns.