Renpenning's syndrome

Presentation

People with Renpenning's typically begin learning language at an ordinary pace, but by the age of 3–4 they experience a regression in mental and physical development, such as mild low muscle tone resulting in elongated faces and rapid loss in the normal growth of the head (microcephaly). Small testes and short stature are also known to commonly occur.

Genetics

It is associated with mutations in the PQBP1 gene. The gene product is a polyglutamine-binding protein involved in transcription and pre-mRNA splicing. The gene itself is located on the short arm of the X chromosome (Xp11.23). The most common mutations causing this condition occur in exon 4.

Diagnosis

This diagnosis may be suspected on clinical grounds but should be confirmed by sequencing the PQBP1 gene.

Treatment

There is no specific or curative treatment for this condition at present. Management is supportive

Epidemiology

This condition normally only occurs in males but a case in a female has been reported.

History

This condition was first characterized in 1962. and later described by Hans Renpenning in 1963 after he documented these traits on many children in one family alone.

References

References

1. (January 2007). "A two base pair deletion in the PQBP1 gene is associated with microphthalmia, microcephaly, and mental retardation". Eur. J. Hum. Genet..
2. Cho RY, Peñaherrera MS, Du Souich C, Huang L, Mwenifumbo J, Nelson TN, Elliott AM, Adam S, Eydoux P, Yang GX, Chijiwa C, Van Allen MI, Friedman JM, Robinson WP, Lehman A (2019) Renpenning syndrome in a female. Am J Med Genet A
3. (November 1962). "Familial sex-linked mental retardation". Can Med Assoc J.