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Titel:

Homozygous loss-of-function variants of TASP1, a gene encoding an activator of the histone methyltransferases KMT2A and KMT2D, cause a syndrome of developmental delay, happy demeanor, distinctive facial features, and congenital anomalies.

Dokumenttyp:
Article; Early Access; Journal Article
Autor(en):
Suleiman, Jehan; Riedhammer, Korbinian M; Jicinsky, Timothy; Mundt, Melinda; Werner, Laurie; Gusic, Mirjana; Burgemeister, Anna L; Alsaif, Hessa S; Abdulrahim, Maha; Moghrabi, Nabil N; Nicolas-Jilwan, Manal; AlSayed, Moeenaldeen; Bi, Weimin; Sampath, Srirangan; Alkuraya, Fowzan S; El-Hattab, Ayman W
Abstract:
We report four unrelated children with homozygous loss-of-function variants in TASP1 and an overlapping phenotype comprising developmental delay with hypotonia and microcephaly, feeding difficulties with failure-to-thrive, recurrent respiratory infections, cardiovascular malformations, cryptorchidism, happy demeanor, and distinctive facial features. Two children had a homozygous founder deletion encompassing exons 5-11 of TASP1, the third had a homozygous missense variant, c.701 C>T (p.Thr234Met...     »
Zeitschriftentitel:
Hum Mutat
Jahr:
2019
Band / Volume:
40
Heft / Issue:
11
Seitenangaben Beitrag:
1985-1992
Volltext / DOI:
doi:10.1002/humu.23844
PubMed:
http://view.ncbi.nlm.nih.gov/pubmed/31209944
Print-ISSN:
1059-7794
TUM Einrichtung:
Fachgebiet Nephrologie (Prof. Heemann); Institut für Humangenetik
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