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. 2017 Feb;60(2):130-135.
doi: 10.1016/j.ejmg.2016.11.008. Epub 2016 Nov 30.

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

Mira Kharbanda  1 , Daniela T Pilz  2 , Susan Tomkins  3 , Kate Chandler  4 , Anand Saggar  5 , Alan Fryer  6 , Victoria McKay  6 , Pedro Louro  7 , Jill Clayton Smith  4 , John Burn  8 , Usha Kini  9 , Anna De Burca  9 , David R FitzPatrick  10 , Esther Kinning  2 ; DDD Study  11
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Clinical features associated with CTNNB1 de novo loss of function mutations in ten individuals

Mira Kharbanda et al. Eur J Med Genet. 2017 Feb.

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.

Keywords: CTNNB1; Intellectual disability; Microcephaly.

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Figures

Figure 1
Figure 1
Photographs of 4 patients with CTNNB1 mutations; from left to right, patient 2 (age 20 months), patient 5 (age 8 years), patient 6 (age 27 years) and patient 8 (age 7 months). Note fair and fine hair, and thin upper lip.
Figure 2
Figure 2
Phenicon demonstrating data collected for DDD patients with CTNNB1 mutations.
See this image and copyright information in PMC

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References

    1. Brault V, Moore R, Kutsch S, Ishibashi M, Rowitch DH, McMahon AP, Sommer L, Boussadia O, Kemler R. Inactivation of the beta-catenin gene by Wnt1-Cre-mediated deletion results in dramatic brain malformation and failure of craniofacial development. Development. 2001 Apr;128(8):1253–64. - PubMed
    1. de Ligt J, Willemsen MH, van Bon BW, Kleefstra T, Yntema HG, Kroes T, Vulto-van Silfhout AT, Koolen DA, de Vries P, Gilissen C, del Rosario M, et al. Diagnostic exome sequencing in persons with severe intellectual disability. N Engl J Med. 2012 Nov 15;367(20):1921–9. - PubMed
    1. Dong F, Jiang J, Mcsweeney C, Zou D, Liu L, Mao Y. Deletion of CTNNBl in inhibitory circuitry contributes to autism-associated behavioral defects. Hum Mol Genet. 2016 Apr 30; pii: ddw 131. [Epub ahead of print] - PMC - PubMed
    1. Dubruc E, Putoux A, Labalme A, Rougeot C, Sanlaville D, Edery P. A new intellectual disability syndrome caused by CTNNB1 haploinsufficiency. Am J Med Genet A. 2014 Jun;164A(6):1571–5. - PubMed
    1. Huelsken J, Vogel R, Erdmann B, Cotsarelis G, Birchmeier W. Beta-Catenin controls hair follicle morphogenesis and stem cell differentiation in the skin. Cell. 2001 May 18;105(4):533–45. - PubMed