Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without ‘hairy elbows’: expanding the phenotype of Wiedemann–Steiner syndrome

被引：0

作者：

DORA STEEL

VINCENZO SALPIETRO

RAHUL PHADKE

MATTHEW PITT

GIULIA GENTILE

AHMED MASSOUD

LEIGH BATTEN

ANU BASHAMBOO

KEN MCELREAVEY

ANAND SAGGAR

MARIA KINALI

机构：

[1] Chelsea and Westminster NHS Foundation Trust,Department of Paediatrics

[2] Chelsea and Westminster NHS Foundation Trust,Department of Paediatric Neurology

[3] University of Messina,Department of Paediatrics

[4] National Hospital for Neurology and Neurosurgery,Institute of Neurological Sciences

[5] The Portland Hospital for Women and Children,Department of Paediatrics

[6] Great Ormond Street Hospital for Children NHS Foundation Trust,Human Developmental Genetics

[7] National Research Council,St George’s Hospital

[8] Northwick Park Hospital NHS Foundation Trust,undefined

[9] The Doctors Laboratory,undefined

[10] Institute Pasteur,undefined

[11] NHS Foundation Trust,undefined

来源：

Journal of Genetics | 2015年 / 94卷

关键词：

Wiedemann–Steiner syndrome; whole exome sequencing; hairy elbows; hypertrichosis cubiti; gene; KMT2A; developmental delay; children.;

D O I：

暂无

中图分类号：

学科分类号：

摘要：

引用

页码：755 / 758

页数：3

共 9 条

[1] Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome
Steel, Dora
Salpietro, Vincenzo
Phadke, Rahul
Pitt, Matthew
Gentile, Giulia
Massoud, Ahmed
Batten, Leigh
Bashamboo
Mcelreavey, Ken
Saggar, Anand
Kinali, Maria
JOURNAL OF GENETICS, 2015, 94 (04) : 755 - 758
[2] Three de novo variants in KMT2A (MLL) identified by whole exome sequencing in patients with Wiedemann-Steiner syndrome
Luo, Sukun
Bi, Bo
Zhang, Wenqian
Zhou, Rui
Chen, Wei
Zhao, Peiwei
Huang, Yufeng
Yuan, Li
He, Xuelian
MOLECULAR GENETICS & GENOMIC MEDICINE, 2021, 9 (10):
[3] Trio-whole exome sequencing reveals the importance of de novo variants in children with intellectual disability and developmental delay
Li, Chengyan
Wang, You
Zeng, Cizheng
Huang, Binglong
Chen, Yinhui
Xue, Chupeng
Liu, Ling
Rong, Shiwen
Lin, Yongwen
SCIENTIFIC REPORTS, 2024, 14 (01):
[4] De Novo variants in the KMT2A (MLL) gene causing atypical Wiedemann-Steiner syndrome in two unrelated individuals identified by clinical exome sequencing
Strom, Samuel P.
Lozano, Reymundo
Lee, Hane
Dorrani, Naghmeh
Mann, John
O'Lague, Patricia F.
Mans, Nicole
Deignan, Joshua L.
Vilain, Eric
Nelson, Stanley F.
Grody, Wayne W.
Quintero-Rivera, Fabiola
BMC MEDICAL GENETICS, 2014, 15
[5] Whole Exome Sequencing for a Patient with Rubinstein-Taybi Syndrome Reveals de Novo Variants besides an Overt CREBBP Mutation
Yoo, Hee Jeong
Kim, Kyung
Kim, In Hyang
Rho, Seong-Hwan
Park, Jong-Eun
Lee, Ki Young
Kim, Soon Ae
Choi, Byung Yoon
Kim, Namshin
INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES, 2015, 16 (03): : 5697 - 5713
[6] Unexpected Exome Sequencing Result: De Novo TRPS1 Mutation in an Infant With Infantile Scoliosis, Mild Developmental Delay, and History of Consanguinity
Casci, Ian
Accousti, William
Lacassie, Yves
AMERICAN JOURNAL OF MEDICAL GENETICS PART A, 2014, 164 (05) : 1334 - 1337
[7] Marfan syndrome: whole-exome sequencing reveals de novo mutations, second gene and genotype-phenotype correlations in the Chinese population
Wu, Yuduo
Sun, Hairui
Wang, Jianbin
Wang, Xin
Gong, Ming
Han, Lu
He, Yihua
Zhang, Hongjia
BIOSCIENCE REPORTS, 2020, 40
[8] Whole-exome sequencing in an individual with severe global developmental delay and intractable epilepsy identifies a novel, de novo GRIN2A mutation
Venkateswaran, Sunita
Myers, Ken A.
Smith, Amanda C.
Beaulieu, Chandree L.
Schwartzentruber, Jeremy A.
Majewski, Jacek
Bulman, Dennis
Boycott, Kym M.
Dyment, David A.
EPILEPSIA, 2014, 55 (07) : E75 - E79
[9] Whole exome sequencing reveals a novel de novo FOXC1 mutation in a patient with unrecognized Axenfeld-Rieger syndrome and glaucoma
Pasutto, F.
Mauri, L.
Popp, B.
Sticht, H.
Ekici, A.
Piozzi, E.
Bonfante, A.
Penco, S.
Schloetzer-Schrehardt, U.
Reis, A.
GENE, 2015, 568 (01) : 76 - 80

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