News

Newly identified biallelic YRDC variant causes developmental disorder with features of premature ageing

yrdc-visual-abstract-en

Biallelic variants in YRDC cause a developmental disorder with progeroid features
Schmidt J, Goergens J, Pochechueva T, Kotter A, Schwenzer N, Sitte M, Werner G, Altmüller J, Thiele H, Nürnberg P, Isensee J, Li Y, Müller C, Leube B, Reinhardt HC, Hucho T, Salinas G, Helm M, Jachimowicz RD, Wieczorek D, Kohl T, Lehnart SE, Yigit G, Wollnik B.
Hum Genet. 2021 Sep 20. doi: 10.1007/s00439-021-02347-3. Epub ahead of print.

Read More

Newly identified biallelic variants in MFSD2A expand clinical spectrum of a very rare microcephaly-associated disease

Researchers of the Institute of Human Genetics at the University Medical Center Göttingen, together with their colleagues at the Institute of Human Genetics in Essen and other collaboration partners, identified two novel disease-causing variants in the MFSD2A gene. The encoded protein is a transmembrane molecule and is, for example, responsible for transporting certain essential fatty acids through the blood-brain barrier. Among other functions, the protein plays thus a vital role in early embryonic brain development. With the two severely affected patients investigated in this recent study, a total of 30 persons have now been described in whom homozygous or compound heterozygous MFSD2A variants result in a variable clinical phenotype associated with microcephaly, intellectual disability, developmental delay and – for the newly identified variants – epilepsy.

The results of the study have been published in the European Journal of Medical Genetics.

MFSD2A-associated primary microcephaly – Expanding the clinical and mutational spectrum of this ultra-rare disease
Khuller K, Yigit G, Grijalva CM, Altmüller J, Thiele H, Nürnberg P, Elcioglu NH, Yeter B, Hehr U, Stein A, Della Marina A, Köninger A, Depienne C, Kaiser FJ, Wollnik B, Kuechler A.
Eur J Med Genet. 2021 Aug 13:104310. doi: 10.1016/j.ejmg.2021.104310. Epub ahead of print.

Read More

Variants in clustered protocadherin PCDHGC4 identified as genetic cause of novel neurodevelopmental disorder

news-pcdhgc4

Biallelic variants in PCDHGC4 cause a novel neurodevelopmental syndrome with progressive microcephaly, seizures, and joint anomalies
Iqbal M, Maroofian R, Çavdarlı B, Riccardi F, Field M, Banka S, Bubshait DK, Li Y, Hertecant J, Baig SM, Dyment D, Efthymiou S, Abdullah U, Makhdoom EUH, Ali Z, Scherf de Almeida T, Molinari F, Mignon-Ravix C, Chabrol B, Antony J, Ades L, Pagnamenta AT, Jackson A, Douzgou S; Genomics England Research Consortium, Beetz C, Karageorgou V, Vona B, Rad A, Baig JM, Sultan T, Alvi JR, Maqbool S, Rahman F, Toosi MB, Ashrafzadeh F, Imannezhad S, Karimiani EG, Sarwar Y, Khan S, Jameel M, Noegel AA, Budde B, Altmüller J, Motameny S, Höhne W, Houlden H, Nürnberg P, Wollnik B, Villard L, Alkuraya FS, Osmond M, Hussain MS, Yigit G.
Genet Med. 2021 Jul 9. doi: 10.1038/s41436-021-01260-4. Epub ahead of print.

Read More

Novel homozygous truncating DNM1 variants identified as genetic cause of developmental and epileptic encephalopathy (DEE)

visual-dnm1-en

Loss-of-function variants in DNM1 cause a specific form of developmental and epileptic encephalopathy only in biallelic state
Yigit G, Sheffer R, Daana M, Li Y, Kaygusuz E, Mor-Shakad H, Altmüller J, Nürnberg P, Douiev L, Kaulfuss S, Burfeind P, Wollnik B, Brockmann K
J Med Genet. 2021 Jun 25:jmedgenet-2021-107769. doi: 10.1136/jmedgenet-2021-107769. Epub ahead of print.

Read More

Göttingen researchers reveal first molecular mechanism underlying the rare Hallermann-Streiff syndrome

news-chd6-en

Overarching control of autophagy and DNA damage response by CHD6 revealed by modeling a rare human pathology
Kargapolova Y, Rehimi R, Kayserili H, Brühl J, Sofiadis K, Zirkel A, Palikyras S, Mizi A, Li Y, Yigit G, Hoischen A, Frank S, Russ N, Trautwein J, van Bon B, Gilissen C, Laugsch M, Gusmao EG, Josipovic N, Altmüller J, Nürnberg P, Längst G, Kaiser FJ, Watrin E, Brunner H, Rada-Iglesias A, Kurian L, Wollnik B, Bouazoune K, Papantonis A.
Nat Commun. 2021 May 21;12(1):3014. doi: 10.1038/s41467-021-23327-1.

Read More
Kontaktieren Sie uns

We're not around right now. But you can send us an email and we'll get back to you, asap.

Not readable? Change text. captcha txt

Start typing and press Enter to search