Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals

DDD Study; Mira Kharbanda; Daniela T Pilz; Susan Tomkins; Kate Chandler; Anand Saggar; Alan Fryer; Victoria McKay; Pedro Louro; Jill Clayton Smith; John Burn; Usha Kini; Anna De Burca; David R FitzPatrick; Esther Kinning

doi:10.1016/j.ejmg.2016.11.008

Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals

DDD Study, Mira Kharbanda, Daniela T Pilz, Susan Tomkins, Kate Chandler, Anand Saggar, Alan Fryer, Victoria McKay, Pedro Louro, Jill Clayton Smith, John Burn, Usha Kini, Anna De Burca, David R FitzPatrick, Esther Kinning

Research output: Contribution to journal › Article › peer-review

Abstract

Loss of function mutations in CTNNB1 have been reported in individuals with intellectual disability [MIM #615075] associated with peripheral spasticity, microcephaly and central hypotonia, suggesting a recognisable phenotype associated with haploinsufficiency for this gene. Trio based whole exome sequencing via the Deciphering Developmental Disorders (DDD) study has identified eleven further individuals with de novo loss of function mutations in CTNNB1. Here we report detailed phenotypic information on ten of these. We confirm the features that have been previously described and further delineate the skin and hair findings, including fair skin and fair and sparse hair with unusual patterning.

Original language	English
Pages (from-to)	130-135
Journal	European journal of medical genetics
Volume	60
Issue number	2
Early online date	30 Nov 2016
DOIs	https://doi.org/10.1016/j.ejmg.2016.11.008
Publication status	Published - Feb 2017

Access to Document

10.1016/j.ejmg.2016.11.008

Clinical features associated with CTNNB1 de novo loss of function mutations in ten individualsAccepted author manuscript, 28.7 KBLicence: Creative Commons: Attribution-NonCommercial-NoDerivatives (CC BY-NC-ND)

Cite this

DDD Study, Kharbanda, M., Pilz, D. T., Tomkins, S., Chandler, K., Saggar, A., Fryer, A., McKay, V., Louro, P., Smith, J. C., Burn, J., Kini, U., De Burca, A., FitzPatrick, D. R., & Kinning, E. (2017). Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals. European journal of medical genetics, 60(2), 130-135. https://doi.org/10.1016/j.ejmg.2016.11.008

@article{b75fb4985a244d45b4395a39dde99b59,

title = "Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals",

abstract = "Loss of function mutations in CTNNB1 have been reported in individuals with intellectual disability [MIM #615075] associated with peripheral spasticity, microcephaly and central hypotonia, suggesting a recognisable phenotype associated with haploinsufficiency for this gene. Trio based whole exome sequencing via the Deciphering Developmental Disorders (DDD) study has identified eleven further individuals with de novo loss of function mutations in CTNNB1. Here we report detailed phenotypic information on ten of these. We confirm the features that have been previously described and further delineate the skin and hair findings, including fair skin and fair and sparse hair with unusual patterning.",

author = "{DDD Study} and Mira Kharbanda and Pilz, {Daniela T} and Susan Tomkins and Kate Chandler and Anand Saggar and Alan Fryer and Victoria McKay and Pedro Louro and Smith, {Jill Clayton} and John Burn and Usha Kini and {De Burca}, Anna and FitzPatrick, {David R} and Esther Kinning",

year = "2017",

month = feb,

doi = "10.1016/j.ejmg.2016.11.008",

language = "English",

volume = "60",

pages = "130--135",

journal = "European journal of medical genetics",

issn = "1769-7212",

publisher = "Elsevier B.V.",

number = "2",

}

DDD Study, Kharbanda, M, Pilz, DT, Tomkins, S, Chandler, K, Saggar, A, Fryer, A, McKay, V, Louro, P, Smith, JC, Burn, J, Kini, U, De Burca, A, FitzPatrick, DR & Kinning, E 2017, 'Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals', European journal of medical genetics, vol. 60, no. 2, pp. 130-135. https://doi.org/10.1016/j.ejmg.2016.11.008

TY - JOUR

T1 - Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals

AU - DDD Study

AU - Kharbanda, Mira

AU - Pilz, Daniela T

AU - Tomkins, Susan

AU - Chandler, Kate

AU - Saggar, Anand

AU - Fryer, Alan

AU - McKay, Victoria

AU - Louro, Pedro

AU - Smith, Jill Clayton

AU - Burn, John

AU - Kini, Usha

AU - De Burca, Anna

AU - FitzPatrick, David R

AU - Kinning, Esther

PY - 2017/2

Y1 - 2017/2

N2 - Loss of function mutations in CTNNB1 have been reported in individuals with intellectual disability [MIM #615075] associated with peripheral spasticity, microcephaly and central hypotonia, suggesting a recognisable phenotype associated with haploinsufficiency for this gene. Trio based whole exome sequencing via the Deciphering Developmental Disorders (DDD) study has identified eleven further individuals with de novo loss of function mutations in CTNNB1. Here we report detailed phenotypic information on ten of these. We confirm the features that have been previously described and further delineate the skin and hair findings, including fair skin and fair and sparse hair with unusual patterning.

AB - Loss of function mutations in CTNNB1 have been reported in individuals with intellectual disability [MIM #615075] associated with peripheral spasticity, microcephaly and central hypotonia, suggesting a recognisable phenotype associated with haploinsufficiency for this gene. Trio based whole exome sequencing via the Deciphering Developmental Disorders (DDD) study has identified eleven further individuals with de novo loss of function mutations in CTNNB1. Here we report detailed phenotypic information on ten of these. We confirm the features that have been previously described and further delineate the skin and hair findings, including fair skin and fair and sparse hair with unusual patterning.

U2 - 10.1016/j.ejmg.2016.11.008

DO - 10.1016/j.ejmg.2016.11.008

M3 - Article

C2 - 27915094

VL - 60

SP - 130

EP - 135

JO - European journal of medical genetics

JF - European journal of medical genetics

SN - 1769-7212

IS - 2

ER -

Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals

Abstract

Access to Document

Fingerprint

Cite this