FAME2 STARD7

Disease caused by novel insertion of pathogenic motif (not found in any controls); size of pathogenic motif observed in two probands ranged from ~274-558 repeats, while the expanded reference motif ranged from 340-390³.

Mechanism

GoF?

RNA toxicity theorized^3,4.

Year

2019³

Location in Gene

Intron 1

Gene Strand

Alleles

Ref. Motif

AAAAT

Pathogenic (ref.)

AAATG

Pathogenic (gene)

ATTTC

Unknown (ref.)

AAAAA, AAAAC, AAACC, AAACG, AAACT, AACTC, AACTG, AATAC, AATAG, ATAAC

Unknown (gene)

TTTTT, GTTTT, GGTTT, CGTTT, AGTTT, AGTTG, AGTTC, ATTGT, ATTCT, ATGTT

gnomAD

References

Direct supporting references for info on this page.

Repeat expansion disorders.

Zhongbo,Chen, Huw R,Morris, James,Polke, Nicholas W,Wood, Sonia,Gandhi, Mina,Ryten, Henry,Houlden, Arianna,Tucci

Practical neurology · 2024-09-30

pmid:39349043

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

Intronic ATTTC repeat expansions in STARD7 in familial adult myoclonic epilepsy linked to chromosome 2.

Mark A,Corbett, Thessa,Kroes, Liana,Veneziano, Mark F,Bennett, Rahel,Florian, Amy L,Schneider, Antonietta,Coppola, Laura,Licchetta, Silvana,Franceschetti, Antonio,Suppa, Aaron,Wenger, Davide,Mei, Manuela,Pendziwiat, Sabine,Kaya, Massimo,Delledonne, Rachel,Straussberg, Luciano,Xumerle, Brigid,Regan, Douglas,Crompton, Anne-Fleur,van Rootselaar, Anthony,Correll, Rachael,Catford, Francesca,Bisulli, Shreyasee,Chakraborty, Sara,Baldassari, Paolo,Tinuper, Kirston,Barton, Shaun,Carswell, Martin,Smith, Alfredo,Berardelli, Renee,Carroll, Alison,Gardner, Kathryn L,Friend, Ilan,Blatt, Michele,Iacomino, Carlo,Di Bonaventura, Salvatore,Striano, Julien,Buratti, Boris,Keren, Caroline,Nava, Sylvie,Forlani, Gabrielle,Rudolf, Edouard,Hirsch, Eric,Leguern, Pierre,Labauge, Simona,Balestrini, Josemir W,Sander, Zaid,Afawi, Ingo,Helbig, Hiroyuki,Ishiura, Shoji,Tsuji, Sanjay M,Sisodiya, Giorgio,Casari, Lynette G,Sadleir, Riaan,van Coller, Marina A J,Tijssen, Karl Martin,Klein, Arn M J M,van den Maagdenberg, Federico,Zara, Renzo,Guerrini, Samuel F,Berkovic, Tommaso,Pippucci, Laura,Canafoglia, Melanie,Bahlo, Pasquale,Striano, Ingrid E,Scheffer, Francesco,Brancati, Christel,Depienne, Jozef,Gecz

Nature communications · 2019-10-29

pmid:31664034

Sequence composition changes in short tandem repeats: heterogeneity, detection, mechanisms and clinical implications.

Indhu-Shree,Rajan-Babu, Egor,Dolzhenko, Michael A,Eberle, Jan M,Friedman

Nature reviews. Genetics · 2024-03-11

pmid:38467784

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)

DNA analysis of benign adult familial myoclonic epilepsy reveals associations between the pathogenic TTTCA repeat insertion in SAMD12 and the nonpathogenic TTTTA repeat expansion in TNRC6A.

Akane,Terasaki, Masayuki,Nakamura, Yuka,Urata, Hanae,Hiwatashi, Izumi,Yokoyama, Takeshi,Yasuda, Teiichi,Onuma, Kazumaru,Wada, Sunao,Kaneko, Rumiko,Kan, Shin-Ichi,Niwa, Ohiko,Hashimoto, Osamu,Komure, Yu-Ichi,Goto, Yuko,Yamagishi, Misa,Nakano, Yoshihiko,Furusawa, Akira,Sano

Journal of human genetics · 2020-10-10

pmid:33040085