ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
ZTTK syndrome: Clinical and molecular findings of 15 cases and a review of the literature.
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DOI：
10.1002/ajmg.a.62445
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发表时间：
2021-12
期刊：
影响因子：
--
通讯作者：
Anyane Yeboa K
中科院分区：
文献类型：
--
作者：
Kushary ST;Revah-Politi A;Barua S;Ganapathi M;Accogli A;Aggarwal V;Brunetti-Pierri N;Cappuccio G;Capra V;Fagerberg CR;Gazdagh G;Guzman E;Hadonou M;Harrison V;Havelund K;Iancu D;Kraus A;Lippa NC;Mansukhani M;McBrian D;McEntagart M;Pacio-Míguez M;Palomares-Bralo M;Pottinger C;Ruivenkamp CAL;Sacco O;Santen GWE;Santos-Simarro F;Scala M;Short J;Sørensen KP;Woods CG;DDD Study;TUDP Consortium;Anyane Yeboa K
Zhu-Tokita-Takenouchi-Kim (ZTTK) syndrome is caused by de novo loss-of-function variants in the SON gene (MIM #617140). This multi-systemic disorder is characterized by intellectual disability, seizures, abnormal brain imaging, variable dysmorphic features and various congenital anomalies. The wide application and increasing accessibility of whole exome sequencing (WES) has helped to identify new cases of ZTTK syndrome over the last few years. To date, there have been approximately 45 cases reported in the literature. Here, we describe 15 additional individuals with variants in the SON gene, including those with missense variants bringing the total number of known cases to 60. We have reviewed the clinical and molecular data of these new cases and all previously reported cases to further delineate the most common as well as emerging clinical findings related to this syndrome. Furthermore, we aim to delineate any genotype-phenotype correlations specifically for a recurring pathogenic four base pair deletion (c.5753_5756del) along with discussing the impact of missense variants seen in the SON gene.
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影响因子：
16
作者：
Kim JH;Baddoo MC;Park EY;Stone JK;Park H;Butler TW;Huang G;Yan X;Pauli-Behn F;Myers RM;Tan M;Flemington EK;Lim ST;Ahn EY
通讯作者：
Ahn EY
影响因子：
64.8
作者：
Karczewski, Konrad J;Francioli, Laurent C;MacArthur, Daniel G
通讯作者：
MacArthur, Daniel G
影响因子：
2.7
作者：
Tan, Ya;Duan, Ling;Lin, Li
通讯作者：
Lin, Li
影响因子：
2
作者：
Slezak R;Smigiel R;Rydzanicz M;Pollak A;Kosinska J;Stawinski P;Malgorzata Sasiadek M;Ploski R
通讯作者：
Ploski R
DOI：
10.1038/gim.2015.30
发表时间：
2015-05
期刊：
Genetics in medicine : official journal of the American College of Medical Genetics
影响因子：
--
作者：
Richards S;Aziz N;Bale S;Bick D;Das S;Gastier-Foster J;Grody WW;Hegde M;Lyon E;Spector E;Voelkerding K;Rehm HL;ACMG Laboratory Quality Assurance Committee
通讯作者：
ACMG Laboratory Quality Assurance Committee