TTTTA repeat expansions and TTTCA repeat insertions in intron 4 of the RAI1 gene that co-segregated with disease status in a single large family from Mali². Ten affected individuals were studied. Both TTTTA and TTTCA motifs were observed in all eight of the affected individuals with spanning reads, with allele sizes in the range: (TTTTA)278-773(TTTCA)9-334. A single individual was observed with additional motifs and interruptions in one allele with the structure: (TTTTA)exp(GGGGT)ins(GGGAT)ins(TTTCA)ins. TTTCA repeats were absent in 200 Malian controls, who had alleles in the range: (TTTCA)16-20. Reviewed in¹. It is uncertain if expansions at both the TTTTA and TTTCA motifs, or only the TTTCA motif are required for pathogenicity. The pathogenic range in STRchive is for the TTTCA motif only. Note: locus is partially deleted in T2T reference genome.

Mechanism

Unknown

Expression isn't changed³.

Detection

Year

2024²

Location in Gene

Intron 4

Gene Strand

Alleles

Ref. Motif

TTTTA

Ranges

Benign (ref.)

TTTTA

Benign (gene)

ATTTT

Pathogenic (ref.)

TTTCA

Pathogenic (gene)

ATTTC

Unknown (ref.)

–

Unknown (gene)

–

Interruption (ref.)

GGGGT, GGGAT

Interruption (gene)

GGGGT, ATGGG

References

Direct supporting references for info on this page.

Neurological disorders caused by novel non-coding repeat expansions: clinical features and differential diagnosis.

Elisa,Vegezzi, Hiroyuki,Ishiura, D Cristopher,Bragg, David,Pellerin, Francesca,Magrinelli, Riccardo,Currò, Stefano,Facchini, Arianna,Tucci, John,Hardy, Nutan,Sharma, Matt C,Danzi, Stephan,Zuchner, Bernard,Brais, Mary M,Reilly, Shoji,Tsuji, Henry,Houlden, Andrea,Cortese

The Lancet. Neurology · 2024-07-01

pmid:38876750

Pentanucleotide Repeat Insertions in RAI1 Cause Benign Adult Familial Myoclonic Epilepsy Type 8.

Patra,Yeetong, Mohamed E,Dembélé, Monnat,Pongpanich, Lassana,Cissé, Chalurmpon,Srichomthong, Alassane B,Maiga, Kékouta,Dembélé, Adjima,Assawapitaksakul, Salia,Bamba, Abdoulaye,Yalcouyé, Salimata,Diarra, Samuel Ephrata,Mefoung, Supphakorn,Rakwongkhachon, Oumou,Traoré, Siraprapa,Tongkobpetch, Kenneth H,Fischbeck, William A,Gahl, Cheick O,Guinto, Vorasuk,Shotelersuk, Guida,Landouré

Movement disorders : official journal of the Movement Disorder Society · 2023-11-22

pmid:37994247

Early detection of hematopoietic engraftment after bone marrow and peripheral blood stem cell transplantation by highly fluorescent reticulocyte counts.

H T,Greinix, W,Linkesch, F,Keil, P,Kalhs, I,Schwarzinger, B,Schneider, C,Oesterreicher, S,Brugger, S,Kapiotis, K,Lechner

Bone marrow transplantation · 1994-08-01

pmid:7994247

Additional Literature

Additional literature related to this locus.

Raw PubMed search results
(All PubMed results returned by searching for this gene, tandem repeats, and disease, in medline format)

Pentanucleotide repeat instability and transmission in benign adult familial myoclonic epilepsy types 1, 4, and 8.

Supphakorn,Rakwongkhachon, Monnat,Pongpanich, Chalurmpon,Srichomthong, Adjima,Assawapitaksakul, Siraprapa,Tongkobpetch, Kanokwan,Santawong, William A,Gahl, Chaipat,Chunharas, Guida,Landouré, Patra,Yeetong, Vorasuk,Shotelersuk

Epilepsia · 2026-03-24

pmid:41874439

Targeted nanopore long-read sequencing panel for the molecular diagnosis of intronic expansion in familial adult myoclonic epilepsy.

Haruka,Urabe, Takashi,Nakajima, Satomi,Mitsuhashi, Kentaro,Ohta, Hidehiko,Fujinaka, Kiyoe,Goto, Aki,Sato

BMC medical genomics · 2025-11-11

pmid:41219789

Telmisartan is neuroprotective in a hiPSC-derived spinal microtissue model for C9orf72 ALS via inhibition of neuroinflammation.

Berkiye,Sonustun, Björn F,Vahsen, Mario,Ledesma-Terrón, Zhuoning,Li, Laura,Tuffery, Nan,Xu, Elizabeth L,Calder, Johannes,Jungverdorben, Leslie,Weber, Aaron,Zhong, David G,Miguez, Mara,Monetti, Ting,Zhou, Elisa,Giacomelli, Lorenz,Studer

Stem cell reports · 2025-06-19

pmid:40541176

Identifying unstable CNG repeat loci in the human genome: a heuristic approach and implications for neurological disorders.

Varun,Suroliya, Bharathram,Uppili, Manish,Kumar, Vineet,Jha, Achal K,Srivastava, Mohammed,Faruq

Human genome variation · 2024-06-13

pmid:38871700

Expansion of testing, isolation, quarantine, e-health and telemonitoring strategies in socioeconomically vulnerable neighbourhoods at primary healthcare in the fight against COVID-19 in Brazil: a study protocol of a multisite testing intervention using a mixed method approach.

Laio,Magno, Thais Regis Aranha,Rossi, Débora,Castanheira, Thiago S,Torres, Carina Carvalho Dos,Santos, Fabiane,Soares, Valdiléa G,Veloso, Marcos,Benedetti, Ines,Dourado

BMJ open · 2023-06-20

pmid:37339841

Effect of CAG repeats on the age at onset of patients with spinocerebellar ataxia type 2 in China.

Yu,Li, Zhen,Liu, Xiaorong,Hou, Zhao,Chen, Lu,Shen, Kun,Xia, Beisha,Tang, Hong,Jiang, Junling,Wang

Zhong nan da xue xue bao. Yi xue ban = Journal of Central South University. Medical sciences · 2021-08-28

pmid:34565721

Digestive involvement in a severe form of Snyder-Robinson syndrome: Possible expansion of the phenotype.

Pauline,Dontaine, Elisa,Kottos, Martine,Dassonville, Ovidiu,Balasel, Véronique,Catros, Julie,Soblet, Pascale,Perlot, Catheline,Vilain

European journal of medical genetics · 2020-11-10

pmid:33186760

Expansion and Conservation of Biosynthetic Gene Clusters in Pathogenic

Paula M,Moolhuijzen, Mariano Jordi,Muria-Gonzalez, Robert,Syme, Catherine,Rawlinson, Pao Theen,See, Caroline S,Moffat, Simon R,Ellwood

Toxins · 2020-04-09

pmid:32283749

Kondo-Induced Giant Isotropic Negative Thermal Expansion.

D G,Mazzone, M,Dzero, Am M,Abeykoon, H,Yamaoka, H,Ishii, N,Hiraoka, J-P,Rueff, J M,Ablett, K,Imura, H S,Suzuki, J N,Hancock, I,Jarrige

Physical review letters · 2020-03-27

pmid:32281848

Locus FAME8 RAI1

Disease

Locus

Alleles

References

Additional Literature