DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

Salim Aftimos; Siddharth Banka; Michael L Begleiter; Leonilda Bilo; Edward Blair; Lindsay C Burrage; David S Liu; Isabelle De Bie; Têmis Maria Félix; Jacques C Giltay; Richard A Gibbs; Fabienne Giuliano; Kinga Hadzsiev; Mutsuki Hori; Ariana Kariminejad; Hülya Kayserili; Bronwyn Kerr; Brendan H Lee; James T Lu; Alison Male; Girish Meenakshi; Antje Mey; Mitzi L Murray; Lal D V Nair; Sheela Nampoothiri; William G Newman; Silvio Peluso; Heidi Peters; R Powell; Gabriela M Repetto; Patrick Rump; Fernando Santos-Simarro; Fiona Stewart; Yolande van Bever; Jenneke van den Ende; Dagmar Wieczorek; Marzena Wisniewska; Sanjay M Sisodiya; Philippe M Campeau; Raoul C Hennekam

doi:10.1002/ajmg.c.31412

DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

Salim Aftimos (Collaborator), Siddharth Banka (Collaborator), Michael L Begleiter (Collaborator), Leonilda Bilo (Collaborator), Edward Blair (Collaborator), Lindsay C Burrage (Collaborator), David S Liu (Collaborator), Isabelle De Bie (Collaborator), Têmis Maria Félix (Collaborator), Jacques C Giltay (Collaborator), Richard A Gibbs (Collaborator), Fabienne Giuliano (Collaborator), Kinga Hadzsiev (Collaborator), Mutsuki Hori (Collaborator), Ariana Kariminejad (Collaborator), Hülya Kayserili (Collaborator), Bronwyn Kerr (Collaborator), Brendan H Lee (Collaborator), James T Lu (Collaborator), Alison Male (Collaborator)Girish Meenakshi (Collaborator), Antje Mey (Collaborator), Mitzi L Murray (Collaborator), Lal D V Nair (Collaborator), Sheela Nampoothiri (Collaborator), William G Newman (Collaborator), Silvio Peluso (Collaborator), Heidi Peters (Collaborator), R Powell (Collaborator), Gabriela M Repetto (Collaborator), Patrick Rump (Collaborator), Fernando Santos-Simarro (Collaborator), Fiona Stewart (Collaborator), Yolande van Bever (Collaborator), Jenneke van den Ende (Collaborator), Dagmar Wieczorek (Collaborator), Marzena Wisniewska (Collaborator), Sanjay M Sisodiya (Collaborator), Philippe M Campeau (Collaborator), Raoul C Hennekam (Collaborator)

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

Abstract

DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures. Half of the patients with all clinical features have mutations in TBC1D24. We review here the manifestations of patients clinically diagnosed with DOORS syndrome. In this cohort of 32 families (36 patients) we detected 13 individuals from 10 families with TBC1D24 mutations. Subsequent whole exome sequencing in the cohort showed the same de novoSMARCB1 mutation (c.1130G>A), known to cause Coffin-Siris syndrome, in two patients. Distinguishing features include retinal anomalies, Dandy-Walker malformation, scoliosis, rocker bottom feet, respiratory difficulties and absence of seizures, and 2-oxoglutaric aciduria in the patients with the SMARCB1 mutation. We briefly discuss the heterogeneity of the DOORS syndrome phenotype and the differential diagnosis of this condition.

Original language	English
Journal	American journal of medical genetics. Part C, Seminars in medical genetics
Volume	166C
Issue number	3
DOIs	https://doi.org/10.1002/ajmg.c.31412
Publication status	Published - Sept 2014

Keywords

DOOR syndrome
DOORS syndrome
SMARCB1
TBC1D24
deafness
genotype-phenotype correlation
intellectual disability
phenotype
seizures

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10.1002/ajmg.c.31412

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Aftimos, S., Banka, S., Begleiter, M. L., Bilo, L., Blair, E., Burrage, L. C., Liu, D. S., De Bie, I., Félix, T. M., Giltay, J. C., Gibbs, R. A., Giuliano, F., Hadzsiev, K., Hori, M., Kariminejad, A., Kayserili, H., Kerr, B., Lee, B. H., Lu, J. T., ... Hennekam, R. C. (2014). DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome. American journal of medical genetics. Part C, Seminars in medical genetics, 166C(3). https://doi.org/10.1002/ajmg.c.31412

@article{81b4b3327449444596c65c551a9f98eb,

title = "DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.",

abstract = "DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures. Half of the patients with all clinical features have mutations in TBC1D24. We review here the manifestations of patients clinically diagnosed with DOORS syndrome. In this cohort of 32 families (36 patients) we detected 13 individuals from 10 families with TBC1D24 mutations. Subsequent whole exome sequencing in the cohort showed the same de novoSMARCB1 mutation (c.1130G>A), known to cause Coffin-Siris syndrome, in two patients. Distinguishing features include retinal anomalies, Dandy-Walker malformation, scoliosis, rocker bottom feet, respiratory difficulties and absence of seizures, and 2-oxoglutaric aciduria in the patients with the SMARCB1 mutation. We briefly discuss the heterogeneity of the DOORS syndrome phenotype and the differential diagnosis of this condition.",

keywords = "DOOR syndrome, DOORS syndrome, SMARCB1, TBC1D24, deafness, genotype-phenotype correlation, intellectual disability, phenotype, seizures",

author = "Salim Aftimos and Siddharth Banka and Begleiter, {Michael L} and Leonilda Bilo and Edward Blair and Burrage, {Lindsay C} and Liu, {David S} and {De Bie}, Isabelle and F{\'e}lix, {T{\^e}mis Maria} and Giltay, {Jacques C} and Gibbs, {Richard A} and Fabienne Giuliano and Kinga Hadzsiev and Mutsuki Hori and Ariana Kariminejad and H{\"u}lya Kayserili and Bronwyn Kerr and Lee, {Brendan H} and Lu, {James T} and Alison Male and Girish Meenakshi and Antje Mey and Murray, {Mitzi L} and Nair, {Lal D V} and Sheela Nampoothiri and Newman, {William G} and Silvio Peluso and Heidi Peters and R Powell and Repetto, {Gabriela M} and Patrick Rump and Fernando Santos-Simarro and Fiona Stewart and {van Bever}, Yolande and {van den Ende}, Jenneke and Dagmar Wieczorek and Marzena Wisniewska and Sisodiya, {Sanjay M} and Campeau, {Philippe M} and Hennekam, {Raoul C}",

year = "2014",

month = sep,

doi = "10.1002/ajmg.c.31412",

language = "English",

volume = "166C",

journal = "American journal of medical genetics. Part C, Seminars in medical genetics",

issn = "1552-4876",

publisher = "John Wiley & Sons Ltd",

number = "3",

}

Aftimos, S, Banka, S, Begleiter, ML, Bilo, L, Blair, E, Burrage, LC, Liu, DS, De Bie, I, Félix, TM, Giltay, JC, Gibbs, RA, Giuliano, F, Hadzsiev, K, Hori, M, Kariminejad, A, Kayserili, H, Kerr, B, Lee, BH, Lu, JT, Male, A, Meenakshi, G, Mey, A, Murray, ML, Nair, LDV, Nampoothiri, S, Newman, WG, Peluso, S, Peters, H, Powell, R, Repetto, GM, Rump, P, Santos-Simarro, F, Stewart, F, van Bever, Y, van den Ende, J, Wieczorek, D, Wisniewska, M, Sisodiya, SM, Campeau, PM & Hennekam, RC 2014, 'DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.', American journal of medical genetics. Part C, Seminars in medical genetics, vol. 166C, no. 3. https://doi.org/10.1002/ajmg.c.31412

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A2 - Banka, Siddharth

A2 - Begleiter, Michael L

A2 - Bilo, Leonilda

A2 - Blair, Edward

A2 - Burrage, Lindsay C

A2 - Liu, David S

A2 - De Bie, Isabelle

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A2 - Giltay, Jacques C

A2 - Gibbs, Richard A

A2 - Giuliano, Fabienne

A2 - Hadzsiev, Kinga

A2 - Hori, Mutsuki

A2 - Kariminejad, Ariana

A2 - Kayserili, Hülya

A2 - Kerr, Bronwyn

A2 - Lee, Brendan H

A2 - Lu, James T

A2 - Male, Alison

A2 - Meenakshi, Girish

A2 - Mey, Antje

A2 - Murray, Mitzi L

A2 - Nair, Lal D V

A2 - Nampoothiri, Sheela

A2 - Newman, William G

A2 - Peluso, Silvio

A2 - Peters, Heidi

A2 - Powell, R

A2 - Repetto, Gabriela M

A2 - Rump, Patrick

A2 - Santos-Simarro, Fernando

A2 - Stewart, Fiona

A2 - van Bever, Yolande

A2 - van den Ende, Jenneke

A2 - Wieczorek, Dagmar

A2 - Wisniewska, Marzena

A2 - Sisodiya, Sanjay M

A2 - Campeau, Philippe M

A2 - Hennekam, Raoul C

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N2 - DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures. Half of the patients with all clinical features have mutations in TBC1D24. We review here the manifestations of patients clinically diagnosed with DOORS syndrome. In this cohort of 32 families (36 patients) we detected 13 individuals from 10 families with TBC1D24 mutations. Subsequent whole exome sequencing in the cohort showed the same de novoSMARCB1 mutation (c.1130G>A), known to cause Coffin-Siris syndrome, in two patients. Distinguishing features include retinal anomalies, Dandy-Walker malformation, scoliosis, rocker bottom feet, respiratory difficulties and absence of seizures, and 2-oxoglutaric aciduria in the patients with the SMARCB1 mutation. We briefly discuss the heterogeneity of the DOORS syndrome phenotype and the differential diagnosis of this condition.

AB - DOORS syndrome (Deafness, Onychodystrophy, Osteodystrophy, mental Retardation, Seizures) is characterized mainly by sensorineural deafness, shortened terminal phalanges with small nails of hands and feet, intellectual deficiency, and seizures. Half of the patients with all clinical features have mutations in TBC1D24. We review here the manifestations of patients clinically diagnosed with DOORS syndrome. In this cohort of 32 families (36 patients) we detected 13 individuals from 10 families with TBC1D24 mutations. Subsequent whole exome sequencing in the cohort showed the same de novoSMARCB1 mutation (c.1130G>A), known to cause Coffin-Siris syndrome, in two patients. Distinguishing features include retinal anomalies, Dandy-Walker malformation, scoliosis, rocker bottom feet, respiratory difficulties and absence of seizures, and 2-oxoglutaric aciduria in the patients with the SMARCB1 mutation. We briefly discuss the heterogeneity of the DOORS syndrome phenotype and the differential diagnosis of this condition.

KW - DOOR syndrome

KW - DOORS syndrome

KW - SMARCB1

KW - TBC1D24

KW - deafness

KW - genotype-phenotype correlation

KW - intellectual disability

KW - phenotype

KW - seizures

U2 - 10.1002/ajmg.c.31412

DO - 10.1002/ajmg.c.31412

M3 - Article

C2 - 25169651

SN - 1552-4876

VL - 166C

JO - American journal of medical genetics. Part C, Seminars in medical genetics

JF - American journal of medical genetics. Part C, Seminars in medical genetics

IS - 3

ER -

DOORS syndrome: phenotype, genotype and comparison with Coffin-Siris syndrome.

Abstract

Keywords

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