By using Southern blot analysis of leukocytes, it was revealed that the patients (on average) had expanded repeats ranging from 280 to 380 bp which was the equivalent of more than 90 repeats of CGG, when the LRP12 gene of 1,000 control subjects was tested with the same method, it was revealed that they (on average) had between 13 and 45 repeat units of the same nucleotides, with the exception of two out of the 1,000 controls, who had expanded repeats without any symptoms of the condition.In 2020, Deng et al. discovered beterozygous trinucleotide repeat expansions in the 5-prime untranslayed region of the GIPC1 gene of multiple affected members from 3 Chinese families, this trinucleotide sequence consisted of two Gs (guanine) and one C (cytosine). This mutation was later identified by the same team of researchers in 16 patients, of which 9 were Chinese and 7 were Japanese.In 2020, Ogasawara et al. discovered heterozygous trinucleotide repeat expansions in the non-coding region of the NOTCH2NLC gene of 7 un-related Japanese patients with the condition, the trinucleotide sequence consisted of one C (cytosine) and two Gs (guanine), all 5 patients had more than 100 repeats of the trinucleotide sequence, one of which had two expansions consisting of 217 and 674 repeats. See also
Myopathy
Familial episodic pain syndrome


== References ==
Tubulocystic renal cell carcinoma is rare subtype of renal cell carcinoma. == References ==