Unexpected Exome Sequencing Result: De Novo TRPS1 Mutation in an Infant With Infantile Scoliosis, Mild Developmental Delay, and History of Consanguinity

被引：4

作者：

Casci, Ian ^{[1
]}

Accousti, William ^{[2
,3
]}

Lacassie, Yves ^{[3
,4
]}

机构：

[1] LSU Hlth Sci Ctr, Dept Genet, New Orleans, LA 70118 USA

[2] LSU Hlth Sci Ctr, Dept Orthoped, New Orleans, LA 70118 USA

[3] Childrens Hosp, New Orleans, LA USA

[4] LSU Hlth Sci Ctr, Div Genet, Dept Pediat, New Orleans, LA 70118 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART A | 2014年 / 164卷 / 05期

关键词：

SYNDROME TYPE-I; TRICHORHINOPHALANGEAL-SYNDROME; FAMILY; PROTEIN; EXON-7; GENE;

D O I：

10.1002/ajmg.a.36430

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

引用

页码：1334 / 1337

页数：4

共 6 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
DORA STEEL
VINCENZO SALPIETRO
RAHUL PHADKE
MATTHEW PITT
GIULIA GENTILE
AHMED MASSOUD
LEIGH BATTEN
ANU BASHAMBOO
KEN MCELREAVEY
ANAND SAGGAR
MARIA KINALI
Journal of Genetics, 2015, 94 : 755 - 758
[2] 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
[3] Trio-Based Whole-Exome Sequencing Identifies aDe novo EFNB1Mutation as a Genetic Cause in Female Infant With Brain Anomaly and Developmental Delay
Han, Ji Yoon
Kim, Hyun Jeong
Jang, Ja Hyun
Lee, In Goo
Park, Joonhong
FRONTIERS IN PEDIATRICS, 2020, 8
[4] Exome sequencing identifies a de novo mutation of CTNNB1 gene in a patient mainly presented with retinal detachment, lens and vitreous opacities, microcephaly, and developmental delay
Li, Niu
Xu, Yufei
Li, Guoqiang
Yu, Tingting
Yao, Ru-en
Wang, Xiumin
Wang, Jian
MEDICINE, 2017, 96 (20)
[5] 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
[6] Trio exome sequencing identified a novel de novo WASF1 missense variant leading to recurrent site substitution in a Chinese patient with developmental delay, microcephaly, and early-onset seizures: A mutational hotspot p.Trp161 and literature review
Zhao, Arman
Zhou, Rui
Gu, Qin
Liu, Min
Zhang, Bingbing
Huang, Jing
Yang, Bin
Yao, Ruen
Wang, Jian
Lv, Haitao
Wang, Jian
Shen, Yiping
Wang, Hongying
Chen, Xuqin
CLINICA CHIMICA ACTA, 2021, 523 : 10 - 18

← 1 →