Abstract
Introduction: Coffin-Siris syndrome (CSS) (MIM #135900) is an extremely rare genetic multisystemic disorder characterized by aplasia or hypoplasia of the upper phalanx of the fifth finger, moderate to severe cognitive and/or developmental delay, and characteristic facial features (thick lashes, hypertrichosis of the trunk, sparse hair). Congenital anomalies of the brain, kidney, and heart have been described but are less consistent across patients. Case presentation: We report a case of a 12-year-5-month-old girl with the clinical features of CSS, severe scoliosis, and epilepsy. Growth hormone deficiency was diagnosed at the age of 9 years. Recombinant human growth hormone (rhGH) treatment was started that resulted in a significant improvement of the growth velocity up to 5.4 cm/year (>90-97th centile). Next-generation sequencing identified a mutation in the ARID1B gene. Discusion: Despite its phenotypic heterogeneity, key features of CSS have become clearer and along with molecular diagnosis, a further global approach to improve the care of these individuals is enabled. Appropriate therapies for this population are needed to optimize growth and intellectual potentials.
References
1.
Baban
A
, Moresco
L
, Divizia
MT
, Rossi
A
, Ravazzolo
R
, Lerone
M
, Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome
. Am J Med Genet Part A
. 2008
;146A
:384
–8
.2.
Bramswig
NC
, Caluseriu
O
, Ludecke
HJ
, Bolduc
FV
, Noel
NC
, Wieland
T
, Heterozygosity for ARID2 loss-of-function mutations in individuals with a Coffin-Siris syndrome-like phenotype
. Hum Genet
. 2017
;136
:297
–305
.3.
Celen
C
, Chuang
JC
, Luo
X
, Nijem
N
, Walker
AK
, Chen
F
, ARID1b haploinsufficient mice reveal neuropsychiatric phenotypes and reversible causes of growth impairment
. Elife
. 2017
;6
:e25730
.4.
Coffin
GS
, Siris
E
. Mental retardation with absent fifth fingernail and terminal phalanx
. Am J Dis Child
. 1970
;119
:433
–9
. .5.
Finkielstain
GP
, Forcinito
P
, Lui
JC
, Barnes
KM
, Marino
R
, Makaroun
S
, An extensive genetic program occurring during postnatal growth in multiple tissues
. Endocrinology
. 2009
;150
(4
):1791
–800
.6.
Halgren
C
, Kjaergaard
S
, Bak
M
, Hansen
C
, El-Schich
Z
, Anderson
CM
, Corpus callosum abnormalities, intellectual disability, speech impairment, and autism in patients with haploinsufficiency of ARID1B
. Clin Genet
. 2012
;82
:248
–55
.7.
Ho
L
, Crabtree
GR
. Chromatin remodelling during development
. Nature
. 2010
;463
(7280
):474
–84
. .8.
Imaizumi
K
, Nakamura
M
, Masuno
M
, Makita
Y
, Kuroki
Y
. Hypoglycemia in Coffin-Siris syndrome
. Am J Med Genet
. 1995
;59
(1
):49
–50
. .9.
Lui
JCK
, Andrade
AC
, Forcinito
P
, Hegde
A
, Chen
W
, Baron
J
, Spatial and temporal regulation of gene expression in the mammalian growth plate
. Bone
. 2010
;46
(5
):1380
–90
.10.
Mannino
EA
, Miyawaki
H
, Santen
G
, Schrier Vergano
SA
. First data from a parent-reported registry of 81 individuals with Coffin-Siris syndrome: Natural history and management recommendations.
Am J Med Genet A
. 2018
;176
(11
):2250
–8
.http://11.
McCague
EA
, Lamichhane
R
, Holt
N
, Schrier Vergano
SA
. Growth charts for individuals with Coffin-Siris syndrome
. Am J Med Genet A
. 2020
;182
(10
):2253
–62
.12.
Pedicelli
S
, Peschiaroli
E
, Violi
E
, Cianfarani
S
. Controversies in the definition and treatment of idiopathic short stature (ISS)
. J Clin Res Pediatr Endocrinol
. 2009
;1
:105
–15
. .13.
Pranckėnienė
L
, Siavrienė
E
, Gueneau
L
, Preikšaitienė
E
, Mikštienė
V
, Reymond
A
, De novo splice site variant of ARID1B associated with pathogenesis of Coffin–Siris syndrome
. Mol Genet Genomic Med
. 2019
;7
:e1006
.14.
Rabe
P
, Haverkamp
F
, Emons
D
, Rosskamp
R
, Zerres
K
, Passarge
E
. Syndrome of developmental retardation, facial and skeletal anomalies, and hyperphosphatasia in two sisters: Nosology and genetics of the Coffin-Siris syndrome
. Am J Med Genet
. 1991
;41
(3
):350
–4
.15.
Ronan
JL
, Wu
W
, Crabtree
GR
. From neural development to cognition: unexpected roles for chromatin
. Nat Rev Genet
. 2013
;14
:347
–59
. .16.
Santen
GWE
, Clayton-Smith
J
. The ARID1Bphenotype: What we have learned so far
. Am J Med Genet C Semin Med Genet
. 2014
;166
(3
):276
–89
.17.
Schrier Vergano
S
, Santen
G
, Wieczorek
D
, Wollnik
B
, Matsumoto
N
, Coffin-Siris Syndrome
. In: Adam
MP
, Ardinger
HH
, Pagon
RA
, Wallace
SE
, Bean
LJH
, Stephens
K
, editors. GeneReviews ® [Internet]
; 2013
. [updated 2018 Feb 8].18.
Sokpor
G
, Xie
Y
, Rosenbusch
J
, Tuoc
T
. Chromatin Remodeling BAF (SWI/SNF) Complexes in Neural Development and Disorders
. Front Mol Neurosci
. 2017
;10
:243
. .19.
Van der Sluijs
PJ
, Jansen
S
, Vergano
SA
, Adachi-Fukuda
M
, Alanay
Y
, AlKindy
A
, The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome
. Genet Med.
2019
;21
:1295
–307
.20.
Wieczorek
D
, Bögershausen
N
, Beleggia
F
, Steiner-Haldenstätt
S
, Pohl
E
, Li
Y
, A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling
. Hum Mol Genet
. 2013
;22
:5121
–35
. .21.
Yu
Y
, Yao
R
, Wang
L
, Fan
Y
, Huang
X
, Hirschhorn
J
, De novo mutations in ARID1B associated with both syndromic and non-syndromic short stature
. BMC Genomics
. 2015
;16
(1
):701
.© 2022 S. Karger AG, Basel
2022
Copyright / Drug Dosage / Disclaimer
Copyright: All rights reserved. No part of this publication may be translated into other languages, reproduced or utilized in any form or by any means, electronic or mechanical, including photocopying, recording, microcopying, or by any information storage and retrieval system, without permission in writing from the publisher.
Drug Dosage: The authors and the publisher have exerted every effort to ensure that drug selection and dosage set forth in this text are in accord with current recommendations and practice at the time of publication. However, in view of ongoing research, changes in government regulations, and the constant flow of information relating to drug therapy and drug reactions, the reader is urged to check the package insert for each drug for any changes in indications and dosage and for added warnings and precautions. This is particularly important when the recommended agent is a new and/or infrequently employed drug.
Disclaimer: The statements, opinions and data contained in this publication are solely those of the individual authors and contributors and not of the publishers and the editor(s). The appearance of advertisements or/and product references in the publication is not a warranty, endorsement, or approval of the products or services advertised or of their effectiveness, quality or safety. The publisher and the editor(s) disclaim responsibility for any injury to persons or property resulting from any ideas, methods, instructions or products referred to in the content or advertisements.
You do not currently have access to this content.
