J Genet Med.  2016 Jun;13(1):36-40. 10.5734/JGM.2016.13.1.36.

Two cases of TSC2/PKD1 contiguous gene deletion syndrome

• You J
• Kang E
• Kim Y
• Lee BH
• Ko TS
• Kim GH
• Choi JH
• Yoo HW

• KMID: 2327701
• DOI: http://doi.org/10.5734/JGM.2016.13.1.36

Abstract

Tuberous sclerosis complex (TSC, MIM#191100) is an autosomal dominant neurocutaneous syndrome caused by mutation or deletion of TSC1 encoding hamartin or TSC2 encoding tuberin and characterized by seizure, mental retardation, and multiple hamartomas or benign tumors in the skin, brain, retina, heart, kidney, and lungs. The TSC2 gene on chromosome 16p13.3 lies adjacent to the PKD1 gene which is responsible for autosomal dominant polycystic kidney disease (MIM#173900). The TSC2/PKD1 contiguous gene syndrome (TSC2/PKD1 CGDS, MIM#600273) is caused by deletion of both TSC2 and PKD1 gene. We recently experienced a 15 month-old boy and a 26 month-old girl with TSC2/PKD1 CGDS confirmed by multiplex ligation-dependent probe amplification (MLPA) analysis. They showed not only typical neurologic manifestations of TSC such as epilepsy, subependymal nodules, and subcortical tubers, but also polycystic kidney disease. The contiguous gene syndrome involving PKD1 and TSC2 should be suspected in children with enlarged polycystic kidneys and TSC. MLPA analysis is a useful method for the genetic confirmation of TSC2/PKD1 CGDS.

Keyword

Tuberous sclerosis; Autosomal dominant polycystic kidney disease; Polycystic kidneys; severe infantile with tuberous sclerosis; Multiplex polymerase chain reaction

MeSH Terms

Brain
Child
Epilepsy
Female
Gene Deletion*
Hamartoma
Heart
Humans
Intellectual Disability
Kidney
Lung
Male
Methods
Multiplex Polymerase Chain Reaction
Neurocutaneous Syndromes
Neurologic Manifestations
Polycystic Kidney Diseases
Polycystic Kidney, Autosomal Dominant
Retina
Seizures
Skin
Tuberous Sclerosis